Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Type IV arteriovenous malformation of spinal cord |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Biopsy of lesion of spinal cord |
Procedure site - Direct (attribute) |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Tuberculoma of spinal cord confirmed |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Hereditary sensory-motor neuropathy, type V |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Acute disseminated encephalomyelitis following infectious disease (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
7 |
Myelomeningocele without hydrocephalus (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
5 |
Acute disseminated encephalomyelitis following infectious disease (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
9 |
Lipomyelomeningocele |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
7 |
Spinal cord myoclonus |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Myoclonic epilepsy myopathy sensory ataxia (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Intraspinal epidural granuloma |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Intraspinal granuloma |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Intraspinal abscess |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Closed fracture of sacrum with spinal cord lesion |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Spinal cord injury due to birth trauma (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Spastic paralysis due to spinal birth injury |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Amyelia |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Congenital syringomyelia (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Atelomyelia |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
4 |
Hemimyelia |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Hydromyelia |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Faun tail syndrome |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Myelatelia |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Spinal cord dysplasia |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Diplomyelia |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
diastématomyélie |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Rachischisis with hydrocephalus |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
7 |
Myeloschisis |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
4 |
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis totalis (holorachischisis) is the extreme form in which the entire spinal cord remains open. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
5 |
Congenital anomaly of spinal cord |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Hydrorhachis |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
5 |
Spinal cord hypoplasia |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Split spinal cord malformation (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Occult spinal dysraphism sequence |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
5 |
Klippel-Feil sequence |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
5 |
Klippel-Feil sequence |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Occult spinal dysraphism sequence |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
7 |
Sirenoform monster |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Sacral dysgenesis |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Abnormality of canalization and retrogressive differentiation (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Caudal regression syndrome |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Mermaid sirenomelia |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Fibrolipoma of filum terminale |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Spinal hamartoma |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Lumbosacral agenesis (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Lumbosacral agenesis (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
4 |
Infantile ascending hereditary spastic paralysis (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Azorean disease, type I |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Azorean disease |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Azorean disease, type III |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Azorean disease, type II |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Diphtheria radiculomyelitis |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
5 |
Azorean disease, type IV |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Postvaricella myelitis |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Herpes zoster myelitis (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Spastic paraplegia type 15 |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Myelopathy due to malignant neoplastic disease (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Sacral dysgenesis |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Myelitis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Post-immunization myelitis (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Tuberculous abscess of spinal cord (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
4 |
Spinocerebellar ataxia type 36 (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Post-infectious encephalomyelitis |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Encephalomyelitis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Myelopathy due to benign neoplastic disease (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Tuberculosis of spinal cord (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Benign neoplasm of spinal intradural extramedullary space |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Acute viral transverse myelitis |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Myelopathy co-occurrent and due to lumbosacral intervertebral disc disorder |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Myelopathy due to spinal stenosis of lumbar region |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Spinal cord compression due to metastasis to spine (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Disorder of spinal cord co-occurrent with human immunodeficiency virus infection (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Myelitis co-occurrent with human immunodeficiency virus infection |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
A progressive chronic inflammatory disease of the central nervous system with the aetiologic agent Human T cell lymphotropic virus type I (HTLV-I), the disease is characterised by unremitting myelopathic symptoms such as spastic paraparesis, bowel and/or bladder dysfunction and sensory changes of the lower limbs. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A form of hereditary spastic ataxia characterised by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity and sometimes predominant cerebellar ataxia. In addition to frequent sphincter dysfunction and decreased vibratory sense at the ankles, manifestations may include optical neuropathy, nystagmus, blepharoptosis, ophthalmoplegia, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, muscle atrophy, parkinsonism, and dystonia. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
An autosomal dominant cerebellar ataxia type III that is characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia characterized by ataxia with sensory neuropathy. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
3 |
A rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar ataxia, tremor and cognitive impairment. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Encephalomyelitis due to rubella (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Progressive congenital rubella encephalomyelitis |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
5 |
A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterised by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar ataxia and prominent sensory neuropathy. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |