Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Percutaneous needle biopsy of cyst of spinal cord using computed tomography guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinal cord compression due to neoplasm (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
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. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
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. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
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. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Lesion of spinal cord |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration, typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis, and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar edema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Implantation of spinal cord stimulator generator and electrode (procedure) |
Procedure site - Indirect (attribute) |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Implantation of temporary spinal cord stimulator electrode |
Procedure site - Indirect (attribute) |
False |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Amyotrophic lateral sclerosis with spinocerebellar ataxia (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Autoimmune acquired autonomic encephalomyelitis |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Autoimmune disorder of spinal cord (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Autosomal dominant complex hereditary spastic paraplegia (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Primary gliosarcoma of spinal cord (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Primary malignant glioma of spinal cord |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Primary glioblastoma multiforme of spinal cord |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Primary astrocytoma of spinal cord (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Primary oligodendroglioma of spinal cord |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Primary anaplastic astrocytoma of spinal cord |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Complete transverse myelitis (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachy plagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Myelopathy due to liver disease |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Disorder of spinal cord due to electrical exposure (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Compression of spinal cord due to hemorrhage (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Open aspiration of lesion of spinal cord (procedure) |
Procedure site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Friedreich ataxia |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
4 |
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. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
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. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Chronic disorder of spinal cord (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Atypical meningioma of spinal cord (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Subependymoma of spinal cord |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Postvaccinal encephalomyelitis |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
3 |
A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
3 |
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. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Infection associated with neurostimulator of spinal cord (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Primary foraminoplasty of spine (procedure) |
Procedure site - Direct (attribute) |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
A rare, closed spinal dysraphism with characteristics of a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele). |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
3 |
A rare dysraphic abnormality with characteristics of a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity, and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
A rare form of limited dorsal myeloschisis (LDM), with characteristics of a non-saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to the cutaneous stigmata. Fibroneural stalk varies in thickness and complexity. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
A rare form of limited dorsal myeloschisis (LDM), characterized by the stalk attached to the apex of a fully epithelialized meningocele. Chiari II malformation is not present. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
A very rare non-dysraphic spinal cord lipoma which is located within the spinal cord. There is no defect in the overlying dura. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Grafting of tissue to spinal cord (procedure) |
Procedure site - Direct (attribute) |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Disorder of spinal cord due to and following radiotherapy |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A rare closed spinal dysraphism with characteristics of myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Vascular structure within spinal cord (body structure) |
Is a |
True |
Spinal cord structure |
Inferred relationship |
Some |
|
Haemangioblastoma of spinal cord |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Long tract sign |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Excision of bone of suboccipital cranium and lamina of cervical vertebra for decompression of medulla and spinal cord (procedure) |
Procedure site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Excision of lamina of lumbar vertebra for decompression of spinal cord (procedure) |
Procedure site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Neurenteric cyst of spine (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |