Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
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 |
Existential restriction modifier (core metadata concept) |
5 |
Olivopontocerebellar atrophy co-occurrent with sensorineural hearing loss (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Choroideremia co-occurrent with hypopituitarism |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spinocerebellar ataxia type 28 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 28 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spinocerebellar ataxia type 29 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 29 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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. |
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) |
3 |
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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Wilson's disease |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Wilson's disease |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Wilson's disease |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Fryns macrocephaly |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia, characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Logopenic progressive aphasia |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Right temporal lobar atrophy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Maternally inherited Leigh syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Altered behavior due to Pick's disease (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Corneal cerebellar syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Behavioural variant of frontotemporal dementia |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile striatonigral degeneration (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Advanced collapse of scapholunate joint due to osteoarthritis (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Alzheimer's disease co-occurrent with delirium |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
arthrose de la hanche concomitante de et due à une dysplasie |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 26 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 26 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spinocerebellar ataxia type 25 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 25 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spinocerebellar ataxia type 23 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 23 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
An X-linked syndromic intellectual disability characterised by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked neurodegenerative syndrome Bertini type (disorder) |
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) |
3 |
Spinocerebellar ataxia type 11 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 11 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spinocerebellar ataxia type 12 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 12 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spinocerebellar ataxia type 13 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 13 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spinocerebellar ataxia type 14 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 14 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spinocerebellar ataxia type 17 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 17 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spinocerebellar ataxia type 18 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 18 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spinocerebellar ataxia type 19 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 19 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spinocerebellar ataxia type 27 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 27 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spinocerebellar ataxia type 32 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 32 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spinocerebellar ataxia type 35 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 35 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spinocerebellar ataxia type 37 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 37 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spinocerebellar ataxia type 5 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia type 5 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Vogt's limbal girdle, type I (finding) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked sideroblastic anaemia with spinocerebellar ataxia |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
X-linked spinocerebellar ataxia type 3 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked spinocerebellar ataxia type 3 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
X-linked spinocerebellar ataxia type 4 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked spinocerebellar ataxia type 4 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Bilateral osteoarthritis of first carpometacarpal joint |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral osteoarthritis of first carpometacarpal joint |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Osteoarthritis of joint of left shoulder region (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of joint of left wrist (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of joint of right ankle and/or foot (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of joint of right elbow (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of left hip joint (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of left knee joint |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of joint of left ankle (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of joint of left hand |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of joint of right hand |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of joint of right shoulder region (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of joint of right wrist (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of right hip joint (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of right knee joint (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Corneal cerebellar syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteoarthritis of right foot |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of left foot (disorder) |
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) |
6 |
X-linked sideroblastic anaemia with spinocerebellar ataxia |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Morton's neuroma (morphologic abnormality) |
Is a |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Posterior vitreous degeneration of right eye |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Posterior vitreous degeneration of left eye (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Posterior vitreous degeneration of bilateral eyes (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |