| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Friedreich ataxia |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary spastic ataxia disorder with childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. Caused by homozygous mutation in the AFG3L2 gene on chromosome 18p11. |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Some |
|
| A rare neuronal ceroid lipofuscinosis disorder with characteristics of juvenile-onset progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and occasionally the retina upon post mortem. |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Some |
|
| Chronic venous infarction of spinal cord (disorder) |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Some |
|
| Progressive congenital rubella encephalomyelitis |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary cerebellar ataxia disorder with characteristics of late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32. |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Some |
|
| A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (for example decreased vibration sense), eye movement anomalies (such as nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. There is evidence the disease is caused by compound heterozygous mutation in the TPP1 gene on chromosome 11p15. |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Some |
|
| A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (for example horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement. Caused by homozygous or compound heterozygous mutation in the ANO10 gene on chromosome 3p22. |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Some |
|
| Hereditary spastic paraplegia |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Some |
|
| A rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor. |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Some |
|
| Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging. |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Some |
|
| Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor. |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset cerebellar ataxia, variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function, and distal sensory impairment. Cerebellar atrophy is typically mild or absent. |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy. |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary ataxia with characteristics of adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis. |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Some |
|
| Multiple sclerosis of the spinal cord |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Some |
|
FHIR