Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Spinocerebellar ataxia type 46 (disorder) |
Is a |
True |
Chronic brain syndrome (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spinocerebellar ataxia type 45 (disorder) |
Is a |
True |
Chronic brain syndrome (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare mitochondrial disease characterised by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated. |
Is a |
True |
Chronic brain syndrome (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Dystonia 28 (disorder) |
Is a |
True |
Chronic brain syndrome (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) |
Is a |
True |
Chronic brain syndrome (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital pontocerebellar hypoplasia type 14 |
Is a |
True |
Chronic brain syndrome (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome (disorder) |
Is a |
True |
Chronic brain syndrome (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pumilio RNA binding family member 1-related cerebellar ataxia (disorder) |
Is a |
True |
Chronic brain syndrome (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Microphthalmia with brain atrophy syndrome (disorder) |
Is a |
True |
Chronic brain syndrome (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Corticobasal degeneration |
Is a |
True |
Chronic brain syndrome (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Atypical Parkinsonism (disorder) |
Is a |
True |
Chronic brain syndrome (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Parkinson's disease |
Is a |
True |
Chronic brain syndrome (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Progressive bulbar palsy of childhood |
Is a |
True |
Chronic brain syndrome (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spinal muscular atrophy with progressive myoclonic epilepsy |
Is a |
True |
Chronic brain syndrome (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) |
Is a |
True |
Chronic brain syndrome (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Multiple sclerosis of the brainstem (disorder) |
Is a |
True |
Chronic brain syndrome (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Marburg acute multiple sclerosis |
Is a |
True |
Chronic brain syndrome (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|