Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Intraocular optic nerve glioma (disorder) |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Neoplasm of uncertain behavior of optic nerve |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Primary optic atrophy |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Paraneoplastic optic neuropathy (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Excision of lesion of optic nerve (II) |
Procedure site - Direct (attribute) |
True |
Optic nerve structure |
Inferred relationship |
Some |
2 |
Repair of optic nerve (II) |
Procedure site - Direct (attribute) |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Compressive optic atrophy (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Primary malignant neoplasm of optic nerve |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Dominant hereditary optic atrophy |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Optic atrophy associated with retinal dystrophy |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Injection of optic nerve (procedure) |
Procedure site - Indirect (attribute) |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Secondary optic atrophy |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Optic atrophy secondary to retinal disease |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Foster-Kennedy syndrome |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Hereditary optic atrophy |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Optic atrophy |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Exploration of optic nerve (II) (procedure) |
Procedure site - Direct (attribute) |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Radial optic neurotomy (procedure) |
Procedure site - Direct (attribute) |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Optic nerve glioma |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Benign neoplasm of optic nerve |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Optic neuritis |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Malignant optic glioma (disorder) |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Compressive optic neuropathy due to thyroid eye disease (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Hereditary optic atrophy NOS |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
1 |
radiolésion du nerf optique |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Intracranial transection of optic nerve (II) |
Procedure site - Direct (attribute) |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Incipient prechiasmal optic nerve compression syndrome |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Intracranial stereotactic neurolysis of optic nerve (II) |
Procedure site - Direct (attribute) |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Endoscopy of nasal sinus with decompression of optic nerve (procedure) |
Procedure site - Direct (attribute) |
False |
Optic nerve structure |
Inferred relationship |
Some |
2 |
Endoscopy of nasal sinus with decompression of optic nerve (procedure) |
Procedure site - Direct (attribute) |
True |
Optic nerve structure |
Inferred relationship |
Some |
2 |
Endoscopic decompression of optic nerve |
Procedure site - Direct (attribute) |
False |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Endoscopic decompression of optic nerve |
Procedure site - Direct (attribute) |
False |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Septo-optic dysplasia sequence |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
5 |
Hypoplasia of the optic nerve |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
3 |
Partial hypoplasia of optic disc |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
3 |
Congenital anomaly of optic nerve |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
2 |
Malignant optic glioma (disorder) |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
2 |
Malignant optic glioma of adulthood |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
3 |
A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Oculocerebral dysplasia syndrome |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
3 |
A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
2 |
Behr syndrome |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
1 |
A rare inherited mitochondrial disease characterized by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
2 |
A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32). |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
2 |
Optic neuropathy due to folate deficiency (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
3 |
Infection causing inflammation of optic nerve (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterised by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
2 |
Disorder of optic nerve due to and following radiotherapy (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
2 |
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
7 |
Meningococcal optic neuritis |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
2 |
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993. |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
5 |
Aplasia of optic nerve (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Congenital atrophy of optic nerve (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Perioperative secondary non-arteritic ischemic optic neuropathy (disorder) |
Finding site |
False |
Optic nerve structure |
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. |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
4 |
Structure of left optic nerve (body structure) |
Is a |
True |
Optic nerve structure |
Inferred relationship |
Some |
|
Structure of right optic nerve (body structure) |
Is a |
True |
Optic nerve structure |
Inferred relationship |
Some |
|
A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
6 |
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
5 |
A rare developmental defect during embryogenesis characterised by underdevelopment of the optic nerve with a subnormal number of optic nerve axons. The condition may be unilateral or bilateral and can occur as an isolated defect or accompany other ocular or cerebral abnormalities. Funduscopic examination reveals a small optic disc, often associated with the double-ring sign, a ring of hypo- or hyperpigmentation surrounding the disc. Clinically, vision may be severely impaired or remain unaffected. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Malignant optic glioma of adulthood |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Ischemic optic neuropathy |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Arteritic ischemic optic neuropathy |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Non-arteritic ischaemic optic neuropathy |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Anterior ischemic optic neuropathy (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Posterior ischemic optic neuropathy (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Perioperative secondary non-arteritic ischemic optic neuropathy (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Arteritic anterior ischemic optic neuropathy (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
7 |
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. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
4 |
A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
A rare, genetic, neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
3 |
Oculocerebral dysplasia syndrome |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Septo-optic dysplasia sequence |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
2 |
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
2 |
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
A rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
3 |
A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Alcohol related optic neuropathy |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterised by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Neuromyelitis optica |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial. |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
3 |
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. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
2 |
Arteritic anterior ischemic optic neuropathy due to giant cell arteritis (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Autosomal recessive optic atrophy type 6 |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Autoimmune optic neuropathy (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Childhood-onset autosomal dominant optic atrophy |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Idiopathic non-arteritic posterior ischemic optic neuropathy (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
neuropathie optique ischémique non artéritique idiopathique |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Optic atrophy due to late syphilis (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Hypoplasia of optic nerve due to central nervous system malformation |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |
Optic nerve hypoplasia due to endocrine deficiency |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Some |
1 |