Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Multiple-level cervical spondylosis without myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Single-level cervical spondylosis with myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Two-level cervical spondylosis with myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Multiple-level cervical spondylosis with myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Single-level lumbosacral spondylosis without myelopathy (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Two-level lumbosacral spondylosis without myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Multiple-level lumbosacral spondylosis without myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lumbosacral spondylosis with myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Single-level lumbosacral spondylosis with myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Two-level lumbosacral spondylosis with myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Multiple-level lumbosacral spondylosis with myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cervical spondylosis with radiculopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Single-level cervical spondylosis with radiculopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Two-level cervical spondylosis with radiculopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Multiple-level cervical spondylosis with radiculopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cervical spondylosis with vascular compression |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Lumbosacral spondylosis with radiculopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Single-level lumbosacral spondylosis with radiculopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Two-level lumbosacral spondylosis with radiculopathy (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Multiple-level lumbosacral spondylosis with radiculopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cervical spondylosis without myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cervical spondylosis (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Lumbosacral spondylosis with root compression |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Choroideremia co-occurrent with hypopituitarism |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 40 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 40 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spinocerebellar ataxia type 38 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 38 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Boucher Neuhäuser syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Thoracic spondylosis with myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Single-level thoracic spondylosis with myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Two-level thoracic spondylosis with myelopathy (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Multiple-level thoracic spondylosis with myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lumbar spondylosis with myelopathy (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Oligoosteoarthritis (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Degeneration of thoracic intervertebral disc without prolapse (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Prolapse of thoracic intervertebral disc co-occurrent and due to degeneration (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Degeneration of lumbar intervertebral disc without prolapse |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Prolapse of lumbar intervertebral disc co-occurrent and due to degeneration (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Prolapse of cervical intervertebral disc co-occurrent and due to degeneration (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Degeneration of cervical intervertebral disc co-occurrent with osteophyte of cervical vertebra (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteoarthritis of bilateral sacroiliac joints (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteoarthritis of bilateral sacroiliac joints (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Degeneration of thoracic intervertebral disc co-occurrent with osteophyte (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Degeneration of lumbar intervertebral disc and osteophyte of lumbar vertebra |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteoarthritis of joint of left ankle and/or foot (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of joint of left shoulder region (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteoarthritis of joint of right shoulder region (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteoarthritis of joint of left elbow |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of left sternoclavicular joint (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of midtarsal joint of right foot (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of midtarsal joint of left foot (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of left foot due to trauma |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteoarthritis of right sacroiliac joint (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of left sacroiliac joint |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of bilateral feet due to trauma (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Osteoarthritis of bilateral feet due to trauma (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Bilateral degenerative rupture of medial meniscus of knee |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Hereditary spastic paraplegia |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hereditary sensory-motor neuropathy, type V |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pure hereditary spastic paraplegia |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Complicated hereditary spastic paraplegia (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Infantile ascending hereditary spastic paralysis (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spastic paraplegia type 15 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A complex hereditary spastic paraplegia characterised 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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spastic paraplegia type 7 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fryns macrocephaly |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hereditary sensory and autonomic neuropathy with spastic paraplegia |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 39 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked spastic paraplegia type 2 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant spastic paraplegia type 36 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant spastic paraplegia type 4 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterised by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 53 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 54 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 55 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 57 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 32 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 26 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 23 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 64 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 63 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 61 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spastic paraplegia with Paget disease of bone syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 18 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disc herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant spastic paraplegia type 10 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant spastic paraplegia type 6 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spastic paraplegia with precocious puberty syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant spastic paraplegia type 29 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spastic paraplegia, nephritis, deafness syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral degenerative rupture of medial meniscus of knee |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Tendinosis of right shoulder (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tendinosis of right biceps brachii (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tendinosis of left biceps brachii (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tendinosis of left shoulder (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tendinosis of bilateral shoulders (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |