Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Optic nerve hypoplasia due to endocrine deficiency |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Late congenital syphilitic optic atrophy |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chronic relapsing inflammatory optic neuropathy (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Optic neuropathy due to micronutrient deficiency |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Disorder of optic nerve due to thiamine deficiency (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 74 |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked spastic paraplegia type 2 (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive spastic paraplegia type 55 (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive spastic paraplegia type 57 |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Multiple mitochondrial dysfunctions syndrome type 4 (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Arteritic posterior ischemic optic neuropathy |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary malignant ependymoma of optic nerve (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary malignant ependymoma of optic nerve (disorder) |
Finding site |
False |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Idiopathic optic neuritis |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Non-arteritic posterior ischemic optic neuropathy |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Optic neuritis due to demyelinating disease |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Post-vaccination optic neuropathy |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked optic atrophy |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary malignant astrocytoma of optic nerve (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Isolated aplasia of optic nerve (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Length of optic nerve in specimen (observable entity) |
Inheres in |
False |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Length of optic nerve in specimen (observable entity) |
Inheres in |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Disorder of optic nerve caused by radiation |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tram track sign of optic nerve (finding) |
Finding site |
True |
Optic nerve structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |