Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Posterior vitreous degeneration of bilateral eyes (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Posterior vitreous degeneration of bilateral eyes (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Salzmann's nodular degeneration of cornea of bilateral eyes (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Salzmann's nodular degeneration of cornea of bilateral eyes (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Salzmann's nodular degeneration of cornea of bilateral eyes (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Salzmann nodular degeneration of cornea of left eye (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Salzmann nodular degeneration of cornea of left eye (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Myopic macular degeneration of bilateral eyes (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Myopic macular degeneration of bilateral eyes (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Non-amnestic Alzheimer disease (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Adult retinoschisis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Adult retinoschisis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Primary progressive apraxia of speech (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Facial onset sensory and motor neuronopathy syndrome (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Degenerative rupture of triangular fibrocartilage of right wrist (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Degenerative rupture of lateral meniscus of right knee (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Degenerative rupture of medial meniscus of left knee (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Degenerative rupture of lateral meniscus of left knee (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked spastic paraplegia type 2 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Degenerative rupture of medial meniscus of right knee |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Degenerative rupture of triangular fibrocartilage of left wrist |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Osteoarthritis of joint of right ankle (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of right sternoclavicular joint (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of right foot due to trauma (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteoarthritis of left ankle due to trauma |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteoarthritis of right ankle due to trauma (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant spastic paraplegia type 36 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant spastic paraplegia type 4 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
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) |
3 |
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) |
3 |
Autosomal recessive spastic paraplegia type 53 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal recessive spastic paraplegia type 54 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal recessive spastic paraplegia type 57 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal recessive spastic paraplegia type 55 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Osteoarthritis of first metatarsophalangeal joint of bilateral feet (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteoarthritis of first metatarsophalangeal joint of bilateral feet (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Osteoarthritis of first metatarsophalangeal joint of right foot (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of first metatarsophalangeal joint of left foot (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of right patellofemoral joint (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of left patellofemoral joint (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral patellofemoral joint osteoarthritis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral patellofemoral joint osteoarthritis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Retinohepatoendocrinologic syndrome (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Infantile onset spinocerebellar ataxia (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Infantile onset spinocerebellar ataxia (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Osteoarthritis of right temporomandibular joint (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of left temporomandibular joint (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant striatal neurodegeneration (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial Scheuermann disease (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of left subtalar joint (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of right subtalar joint (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Intervertebral disc degeneration of cervical spine without prolapsed disc |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tendinosis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autonomic nervous system disorder co-occurrent and due to neurodegenerative disorder (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Epilepsy co-occurrent and due to degenerative brain disorder (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Chorea co-occurrent and due to Wilson disease (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Chorea co-occurrent and due to Wilson disease (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Chorea co-occurrent and due to Wilson disease (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
X-linked hereditary spastic paraplegia (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
X-linked hereditary spastic paraplegia (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
X-linked hereditary spastic paraplegia (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Behavioural disturbance co-occurrent and due to late onset Alzheimer dementia |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive spastic paraplegia type 32 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal recessive spastic paraplegia type 26 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal recessive spastic paraplegia type 23 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal recessive spastic paraplegia type 64 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal recessive spastic paraplegia type 63 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal recessive spastic paraplegia type 61 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spastic paraplegia with Paget disease of bone syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal recessive spastic paraplegia type 18 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
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) |
3 |
Pinguecula of right eye (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant spastic paraplegia type 10 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant spastic paraplegia type 6 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant spastic paraplegia type 29 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spinocerebellar ataxia dysmorphism syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Spinocerebellar ataxia dysmorphism syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Spastic paraplegia with precocious puberty syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Degeneration of iris |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Choroideremia with deafness and obesity syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Van den Bosch syndrome (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Corticobasal degeneration |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Corticobasal degeneration |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spastic paraplegia, nephritis, deafness syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Spondylosis (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Diffuse cervicobrachial syndrome (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Lumbosacral spondylosis without myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spinal arthritis deformans |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
spondylose cervicale avec myélopathie |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Lumbar spondylosis with myelopathy (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spondylosis without myelopathy (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spondylosis with myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Lumbosacral spondylosis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Single-level cervical spondylosis without myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Two-level cervical spondylosis without myelopathy (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Multiple-level cervical spondylosis without myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |