Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Congenital nuclear ophthalmoplegia |
Is a |
True |
Ophthalmoplegia |
Inferred relationship |
Some |
|
External ophthalmoplegia |
Is a |
True |
Ophthalmoplegia |
Inferred relationship |
Some |
|
Progressive supranuclear ophthalmoplegia |
Is a |
True |
Ophthalmoplegia |
Inferred relationship |
Some |
|
Exophthalmic ophthalmoplegia |
Is a |
True |
Ophthalmoplegia |
Inferred relationship |
Some |
|
Painful ophthalmoplegia |
Is a |
True |
Ophthalmoplegia |
Inferred relationship |
Some |
|
Ophthalmoplegia plus syndrome |
Is a |
True |
Ophthalmoplegia |
Inferred relationship |
Some |
|
Total ophthalmoplegia |
Is a |
False |
Ophthalmoplegia |
Inferred relationship |
Some |
|
Recurrent painful ophthalmoplegic neuropathy |
Is a |
False |
Ophthalmoplegia |
Inferred relationship |
Some |
|
Internuclear ophthalmoplegia |
Is a |
True |
Ophthalmoplegia |
Inferred relationship |
Some |
|
Ophthalmoplegia due to diabetes mellitus (disorder) |
Is a |
True |
Ophthalmoplegia |
Inferred relationship |
Some |
|
Ophthalmoplegia due to Graves' disease |
Is a |
True |
Ophthalmoplegia |
Inferred relationship |
Some |
|
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 |
Ophthalmoplegia |
Inferred relationship |
Some |
|
A rare bulbospinal muscular atrophy characterised by generalised neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994. |
Is a |
True |
Ophthalmoplegia |
Inferred relationship |
Some |
|
Ophthalmoplegia due to abetalipoproteinemia (disorder) |
Is a |
True |
Ophthalmoplegia |
Inferred relationship |
Some |
|
Ophthalmoplegia due to neuropathy (disorder) |
Is a |
True |
Ophthalmoplegia |
Inferred relationship |
Some |
|
Combined paralysis of upgaze and downgaze |
Is a |
True |
Ophthalmoplegia |
Inferred relationship |
Some |
|
Fisher's syndrome |
Is a |
True |
Ophthalmoplegia |
Inferred relationship |
Some |
|