Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Disorder of optic nerve |
Is a |
False |
Second cranial nerve finding (finding) |
Inferred relationship |
Some |
|
Tumor invades optic nerve (finding) |
Is a |
False |
Second cranial nerve finding (finding) |
Inferred relationship |
Some |
|
Optic disc finding |
Is a |
False |
Second cranial nerve finding (finding) |
Inferred relationship |
Some |
|
Strachan's syndrome |
Is a |
False |
Second cranial nerve finding (finding) |
Inferred relationship |
Some |
|
Toxic amblyopia |
Is a |
False |
Second cranial nerve finding (finding) |
Inferred relationship |
Some |
|
Optic disc finding |
Is a |
False |
Second cranial nerve finding (finding) |
Inferred relationship |
Some |
|
A rare early childhood onset progressive encephalopathy characterized by extreme cerebellar atrophy, infantile onset hypotonia, infantile spasms with hypsarrhythmia, profound intellectual disability, and optic atrophy. PEHO stands for the main features of the syndrome: Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy. |
Is a |
True |
Second cranial nerve finding (finding) |
Inferred relationship |
Some |
|
A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. |
Is a |
True |
Second cranial nerve finding (finding) |
Inferred relationship |
Some |
|
A rare, severe early-onset neurodegenerative encephalopathy characterized mainly by developmental delay (DD) / developmental regression (DR), epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies. |
Is a |
True |
Second cranial nerve finding (finding) |
Inferred relationship |
Some |
|
A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed. |
Is a |
True |
Second cranial nerve finding (finding) |
Inferred relationship |
Some |
|
A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG. |
Is a |
True |
Second cranial nerve finding (finding) |
Inferred relationship |
Some |
|