Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Lewy body dementia with behavioral disturbance |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
6 |
Early onset Alzheimer's disease with behavioral disturbance |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Obliteration of root canal of tooth due to abnormal mineralization of tooth pulp (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Lichen sclerosus of penis (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
4 |
Pingueculitis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Primary osteoarthritis of ankle |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Secondary osteoarthritis of ankle |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of ankle secondary to trauma (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Primary calcaneocuboid osteoarthritis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of calcaneocuboid joint (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Secondary calcaneocuboid osteoarthritis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Calcaneocuboid osteoarthritis secondary to trauma |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Primary subtalar osteoarthritis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Secondary osteoarthritis of subtalar joint |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of subtalar joint secondary to trauma |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Osteoarthritis of subtalar joint secondary to inflammatory arthritis (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Osteoarthritis of calcaneocuboid joint secondary to inflammatory arthritis (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Osteoarthritis of ankle secondary to inflammatory arthritis (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Osteoarthritis of talonavicular joint |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Primary osteoarthritis of talonavicular joint (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Secondary talonavicular osteoarthritis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Talonavicular osteoarthritis secondary to trauma |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Talonavicular osteoarthritis secondary to inflammatory arthritis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Secondary osteoarthritis of first metatarsophalangeal joint |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Primary osteoarthritis of first metatarsophalangeal joint (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of first metatarsophalangeal joint secondary to trauma |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Osteoarthritis of first metatarsophalangeal joint secondary to inflammatory arthritis (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Congenital arcus juvenilis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Amyloid pterygium |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
5 |
Insertional Achilles tendinopathy (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Non-insertional Achilles tendinopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Excision of pterygium with graft to conjunctiva (procedure) |
Procedure morphology (attribute) |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Excision of pterygium with graft to conjunctiva (procedure) |
Direct morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Excision of pterygium with amniotic membrane graft |
Procedure morphology (attribute) |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Excision of pterygium with amniotic membrane graft |
Direct morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Huntington disease-like syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Frontotemporal dementia with gene located on 3p11 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
GRN-related frontotemporal dementia |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Aicardi's syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
4 |
Aicardi's syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
5 |
Congenital chorioretinal degeneration |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Congenital chorioretinal degeneration |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Congenital degeneration of nervous system |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Aicardi's syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
6 |
Congenital chorioretinal degeneration |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
4 |
Macerated fetus |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Secondary osteoarthritis of midfoot |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of midfoot (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Primary osteoarthritis of midfoot (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of midfoot secondary to trauma |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Osteoarthritis of midfoot secondary to inflammatory arthritis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Stickler syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
4 |
Neuronal ceroid lipofuscinosis 8 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Infantile ascending hereditary spastic paralysis (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
A rare systemic disorder characterised by vitreoretinal and macular degeneration, as well as occipital encephalocele. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
6 |
Spastic paraplegia type 15 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Juvenile osteochondrosis of spine |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Degeneration of lumbosacral intervertebral disc |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhoea, dysphagia, and/or urinary tract infections. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Congenital retinoschisis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Iris and ciliary body degeneration |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Calve's vertebral osteochondrosis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Infectious crystalline keratopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Primary congenital glaucoma (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Juvenile retinoschisis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 36 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 36 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Thoracic spondylosis with myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
5 |
Single-level thoracic spondylosis with myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
5 |
Two-level thoracic spondylosis with myelopathy (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
5 |
Multiple-level thoracic spondylosis with myelopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
5 |
Osteoarthritis of hip due to dysplasia (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Cerebral degeneration due to hypothyroidism |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Cerebral degeneration due to alcoholism (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Degenerative brain disorder caused by alcohol (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
Osteoarthritis of facet joint of thoracic spine (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Osteoarthritis of lumbar spinal facet joint |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
1 |
Sporadic Creutzfeldt-Jakob disease (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Cerebral degeneration due to progressive multifocal leukoencephalopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
Cochleosaccular degeneration-cataract syndrome is characterized by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
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. |
Associated morphology |
False |
dégénérescence |
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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
6 |
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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
2 |
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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
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. |
Associated morphology |
False |
dégénérescence |
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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
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. |
Associated morphology |
False |
dégénérescence |
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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
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. |
Associated morphology |
False |
dégénérescence |
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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
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. |
Associated morphology |
False |
dégénérescence |
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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
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. |
Associated morphology |
False |
dégénérescence |
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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
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. |
Associated morphology |
False |
dégénérescence |
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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
3 |
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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
4 |
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. |
Associated morphology |
False |
dégénérescence |
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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Some |
5 |