Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Axon hillock |
Is a |
True |
Axon structure |
Inferred relationship |
Some |
|
Entire axon |
Is a |
True |
Axon structure |
Inferred relationship |
Some |
|
Peripheral nerve axis cylinder |
Is a |
True |
Axon structure |
Inferred relationship |
Some |
|
Central nervous system axis cylinder |
Is a |
True |
Axon structure |
Inferred relationship |
Some |
|
Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterised by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases. |
Finding site |
False |
Axon structure |
Inferred relationship |
Some |
|
Dying back phenomenon |
Finding site |
False |
Axon structure |
Inferred relationship |
Some |
1 |
Dying back phenomenon |
Finding site |
False |
Axon structure |
Inferred relationship |
Some |
1 |
Ranvier's node |
Is a |
True |
Axon structure |
Inferred relationship |
Some |
|
Axonal neuropathy |
Finding site |
True |
Axon structure |
Inferred relationship |
Some |
2 |
Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterised by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases. |
Finding site |
True |
Axon structure |
Inferred relationship |
Some |
2 |
Axonal sensorimotor neuropathy |
Finding site |
True |
Axon structure |
Inferred relationship |
Some |
2 |
A rare syndromic neurological disorder characterized by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. There have been no further reports since 1996. |
Finding site |
True |
Axon structure |
Inferred relationship |
Some |
1 |
Peripheral axonal neuropathy |
Finding site |
True |
Axon structure |
Inferred relationship |
Some |
2 |
Autosomal recessive axonal neuropathy with neuromyotonia |
Finding site |
True |
Axon structure |
Inferred relationship |
Some |
2 |
A rare mitochondrial disease characterized by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy. |
Finding site |
True |
Axon structure |
Inferred relationship |
Some |
3 |
A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination. |
Finding site |
True |
Axon structure |
Inferred relationship |
Some |
5 |
A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia. |
Finding site |
True |
Axon structure |
Inferred relationship |
Some |
3 |
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 |
Axon structure |
Inferred relationship |
Some |
6 |
Atrophy of axon of peripheral nerve structure (disorder) |
Finding site |
True |
Axon structure |
Inferred relationship |
Some |
1 |