Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Frontotemporal degeneration |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic hepatocerebral degeneration |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Frontal lobe degeneration |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cerebral degeneration presenting primarily with dementia |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Corticobasal degeneration |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cerebral degeneration in childhood |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pigmentary pallidal degeneration |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cerebral degeneration in diseases EC (disorder) |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Striatonigral degeneration |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Progressive supranuclear ophthalmoplegia (disorder) |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Posterior cortical atrophy syndrome |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Kuru |
Is a |
False |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spongiform encephalopathy |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant striatal neurodegeneration (disorder) |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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. |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder) |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Progressive myoclonic epilepsy type 3 (disorder) |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic human prion disease characterised by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioural disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalised spasticity, seizures, urine incontinence and pyramidal abnormalities. There is evidence the disease is caused by 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13. |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
White matter disease (disorder) |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neuroaxonal leukodystrophy |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cerebral calcification |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cerebral atrophy (disorder) |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Parkinson's disease |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Onset of disease between 2 and 5 years of age with characteristics of cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), a recessive autosomal mode of inheritance, neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes. This disease is linked to mutations in the five EIF2B genes encoding the five subunits of the eukaryotic initiation factor 2B (eIF2B), involved in the protein synthesis and its regulation under cellular stress. |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pituitary degeneration |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cerebral non-neuropathic heredofamilial amyloidosis angiopathy |
Is a |
False |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pineal degeneration |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Corticobasal syndrome (disorder) |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia). |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Parkinsonism with polyneuropathy (disorder) |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|