Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Amyotrophic lateral sclerosis type 1 |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Juvenile amyotrophic lateral sclerosis |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Amyotrophic lateral sclerosis type 3 |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Amyotrophic lateral sclerosis type 6 |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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 (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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 (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Amyotrophic lateral sclerosis type 9 |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Amyotrophic lateral sclerosis type 10 |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic neurological disorder characterised 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 (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Multiple mitochondrial dysfunctions syndrome type 4 (disorder) |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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 (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic trochlear nerve palsy |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare acquired peripheral neuropathy characterised 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 (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Megaconial congenital muscular dystrophy (disorder) |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Distal hereditary motor neuropathy type 2 |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intermittent horizontal conjugate gaze deviation (disorder) |
Is a |
False |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intermittent upward gaze deviation |
Is a |
False |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Recurrent idiopathic neuroretinitis (disorder) |
Is a |
False |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Limb girdle muscular dystrophy due to POMK deficiency |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic incomplete quadriplegia due to spinal cord lesion between first and fourth cervical vertebra |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic incomplete quadriplegia due to spinal cord lesion between fifth and seventh cervical vertebra (disorder) |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic sciatica (disorder) |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spastic ataxia, dysarthria due to glutaminase deficiency |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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 (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder) |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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 (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hemifacial spasm |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic painful polyneuropathy |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic painful radiculopathy (disorder) |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic peripheral neuropathic pain following peripheral nerve injury |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic disorder of spinal cord (disorder) |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic central neuropathic pain due to spinal cord injury (disorder) |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic central neuropathic pain due to brain injury (disorder) |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic central neuropathic pain due to multiple sclerosis (disorder) |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
O'Sullivan McLeod syndrome |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mitchell syndrome |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Multiple system atrophy, Parkinson variant (disorder) |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spinal muscular atrophy |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder) |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Multiple sclerosis |
Is a |
True |
Chronic nervous system disorder (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|