| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with mutations in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with the ALS3 gene on the cytogenetic location 18q21. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the FUS gene on chromosome 16p11. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Cytogenetic location is 20p13. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the VAPB gene on chromosome 20q13. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the angiogenin gene (ANG) on chromosome 14q11. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. There is evidence this disease is caused by heterozygous mutation in the TARDBP gene that encodes the TDP43 protein on chromosome 1p36. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A rare genetic neurological disorder characterized by infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech, as well as choreic and athetoid movements, seizures, loss of deep tendon reflexes, and presence of pathological reflexes. Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination. There have been no further descriptions in the literature since 1983. |
Is a |
False |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A rare, severe, genetic, neurometabolic disease characterized by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalized tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| Chronic fourth nerve palsy (disorder) |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A rare developmental defect during embryogenesis caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A rare acquired peripheral neuropathy characterized by paresis of the supraspinatus, infraspinatus, deltoid, and biceps muscles (in C5-C6 injury), wrist and finger extensor muscles (C7 injury), or impaired hand function (C8-Th1 injury) on the affected side due to a traction lesion of the brachial plexus during delivery. The upper trunk of the brachial plexus is most commonly affected, while isolated injury to the lower trunk is very rare. Potential sequelae of brachial plexus injury are muscle atrophy, pain, sensory deficits, and secondary deformities. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A rare genetic, skeletal muscle disease with characteristics of early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibres. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| Intermittent horizontal conjugate gaze deviation (disorder) |
Is a |
False |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| Intermittent upward gaze deviation (disorder) |
Is a |
False |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disc edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe. |
Is a |
False |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| Chronic incomplete quadriplegia due to spinal cord lesion between first and fourth cervical vertebra (disorder) |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| Chronic incomplete quadriplegia due to spinal cord lesion between fifth and seventh cervical vertebra (disorder) |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| Chronic sciatica |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A rare genetic syndromic intellectual disability characterised by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioural abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A rare mitochondrial disease characterized by early infantile onset of progressive neurological deterioration with seizures, spasticity, and lack of psychomotor development. Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A rare primary myoclonus characterized by progressive, involuntary, irregular, clonic or tonic contractions of the muscles innervated by the facial nerve (cranial nerve VII). The symptoms are typically strictly unilateral, mostly persist during sleep, and often occur in the region of the orbicularis oculi muscle first and gradually spread to other parts of the affected half of the face as the disease progresses. Both familial and acquired forms are reported. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| Chronic painful polyneuropathy |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| Chronic painful radiculopathy (disorder) |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| Chronic peripheral neuropathic pain following peripheral nerve injury |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| Chronic disorder of spinal cord (disorder) |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| Chronic central neuropathic pain due to spinal cord injury (disorder) |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| Chronic central neuropathic pain due to brain injury |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| Chronic central neuropathic pain due to multiple sclerosis (disorder) |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A clinically heterogeneous progressive condition characterised by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A rare acquired motor neuron disease with characteristics of an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A rare genetic neurological disorder with characteristics of childhood to adolescence onset of progressive demyelination occurring in episodes, sensorimotor polyneuropathy, and hearing loss. Disease progression and severity is variable. In general, in an increasing and decreasing course, patients eventually develop respiratory insufficiency, loss of motor skills and ambulation, ataxia, and cognitive decline. Vision problems and skin rashes are commonly reported. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A rare genetic neurological syndrome of variable severity with characteristics of progressive spasticity affecting predominantly the lower limbs. Most patients manifest global developmental delay, moderate to severe intellectual disability and white matter abnormalities in infancy complicated by variable features including seizures, episodic respiratory failure, joint contractures and ocular problems. Some patients have normal early development until later childhood followed by regression in motor, cognitive and language skills over time. Some patients manifest only spastic paraplegia. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| Multiple system atrophy, Parkinson variant (disorder) |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| Spinal muscular atrophy |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A rare genetic neurodegenerative disease with characteristics of childhood-onset severe developmental delay with regression, poor motor development, speech impairment and hypotonia due to CLCN6 mutations. Most of the patients have vision abnormalities, respiratory system abnormalities (including chronic respiratory insufficiency and tracheostomy that may lead to ventilator dependency) and feeding difficulties (percutaneous endoscopic gastronomy). Skin abnormalities including hyperhidrosis can be present. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| A rare interstitial lung disease characterized by early-onset, severe, progressive lung disease manifesting by respiratory distress, neurological symptoms including axial hypotonia, developmental delay, irritability, dystonia, poor visual contact and seizures, and variable multisystemic involvement including malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia and liver dysfunction. Kidney dysfunction, cardiac involvement including cardiomegaly and cardiac hypertrophy, decreased vision and strabismus have also been reported. Lung fibrosis may cause death in infancy from respiratory failure. |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
| Multiple sclerosis |
Is a |
True |
Chronic nervous system disorder |
Inferred relationship |
Some |
|
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