Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease. |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Brachial plexus palsy due to birth trauma (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spastic paralysis due to intracranial birth injury |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Phrenic nerve paralysis as birth trauma (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spastic paralysis due to birth injury |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Spastic paralysis due to spinal birth injury |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Klumpke-Déjerine paralysis as birth trauma |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Erb-Duchenne palsy as birth trauma |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Upward gaze deviation (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Monoplegia of leg dominant side as sequela of cerebrovascular disease (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Monoplegia of left dominant lower limb (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Monoplegia of left nondominant lower limb (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Monoplegia of right dominant lower limb |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Monoplegia of right nondominant lower limb (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spastic hemiplegia of left dominant side (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spastic hemiplegia of left nondominant side (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spastic hemiplegia of right dominant side (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spastic hemiplegia of right nondominant side (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Monoplegia of lower limb as sequela of cerebrovascular accident |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Monoplegia of left nondominant upper limb due to and following cerebrovascular accident (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Monoplegia of right nondominant upper limb due to and following cerebrovascular accident (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Monoplegia of arm as late effect of stroke |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Flaccid hemiplegia of left dominant side (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Flaccid hemiplegia of left nondominant side (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Flaccid hemiplegia of right dominant side (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Flaccid hemiplegia of right nondominant side |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hemiplegia of left dominant side (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hemiplegia of left nondominant side |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hemiplegia of right dominant side |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hemiplegia of right nondominant side |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Monoplegia of right upper limb (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Monoplegia of left upper limb (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hemiplegia of nondominant side due to and following ischemic cerebrovascular accident (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hemiplegia of dominant side as sequela of ischaemic cerebrovascular accident |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Monoplegia of upper limb due to and following ischemic cerebrovascular accident (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Hemiplegia of nondominant side due to and following embolic cerebrovascular accident (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Paraplegia due to and following cerebrovascular accident (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute paralytic poliomyelitis, vaccine-associated |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Acute bulbar poliomyelitis caused by Human poliovirus 2 (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute bulbar poliomyelitis caused by Human poliovirus 1 |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute paralytic poliomyelitis due to Human poliovirus 1 (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute paralytic poliomyelitis caused by Human poliovirus 2 |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute paralytic poliomyelitis due to Human poliovirus 3 (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital fibrosis of inferior rectus muscle |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Severe intellectual disability and progressive spastic paraplegia |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Autosomal recessive spastic paraplegia type 27 |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
MT-ATP6-related mitochondrial spastic paraplegia |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal dominant spastic paraplegia type 3 (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal recessive spastic paraplegia type 69 |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal recessive spastic paraplegia type 71 |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal spastic paraplegia type 72 |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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 observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
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 observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Inherited congenital spastic tetraplegia (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal recessive spastic paraplegia type 14 |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Autosomal dominant spastic paraplegia type 38 |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked spastic paraplegia type 16 (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal dominant spastic paraplegia type 13 (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive spastic paraplegia type 56 (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal recessive spastic paraplegia type 24 |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant spastic paraplegia type 8 |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Progressive external ophthalmoplegia of bilateral eyes (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Hemiparesis of left side of face (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hemiparesis of right side of face (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Benedikt's syndrome |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal dominant progressive external ophthalmoplegia type 5 (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal dominant progressive external ophthalmoplegia type 3 (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal dominant progressive external ophthalmoplegia type 4 (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal dominant progressive external ophthalmoplegia type 1 |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal dominant progressive external ophthalmoplegia type 2 (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Atypical progressive supranuclear palsy syndrome (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
X-linked complex hereditary spastic paraplegia |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
X-linked pure hereditary spastic paraplegia |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Progressive supranuclear palsy corticobasal syndrome (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Progressive supranuclear palsy parkinsonism syndrome (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Progressive supranuclear palsy progressive non fluent aphasia |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Exophthalmic ophthalmoplegia |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Monoparesis of lower limb |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hemiplegia and/or hemiparesis following stroke |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hemiparesis as late effect of cerebrovascular disease |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Monoplegia of arm dominant side as sequela of cerebrovascular disease |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
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 observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
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 observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal recessive spastic paraplegia type 74 |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hereditary spastic paraplegia |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant hereditary spastic paraplegia |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked hereditary spastic paraplegia (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal recessive hereditary spastic paraplegia |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant spastic paraplegia type 9B (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant spastic paraplegia type 9A |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
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 observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal dominant spastic paraplegia type 73 |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal recessive spastic paraplegia type 75 |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal recessive spastic paraplegia type 77 |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal recessive spastic paraplegia type 78 (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Acquired horizontal gaze palsy (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |