Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
X-linked distal arthrogryposis multiplex congenita (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant Charcot-Marie-Tooth disease type 2W |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hereditary sensory and autonomic neuropathy type 8 (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2Z |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant Charcot-Marie-Tooth disease type 2Y (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Charcot-Marie-Tooth disease type 2S |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant Charcot-Marie-Tooth disease type 2V (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2DD |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A rare autosomal dominant distal hereditary motor neuropathy disease characterized by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare mitochondrial disease characterised by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Distal hereditary motor neuropathy type 2 |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital insensitivity to pain with severe intellectual disability (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital axonal neuropathy with encephalopathy |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hereditary sensory autonomic neuropathy type IIC |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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 |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Peripheral neurostimulator |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spinal neuropacemaker |
Has device intended site (attribute) |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Analgesic implantable peripheral nerve electrical stimulation system (physical object) |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Somatosensory electrical stimulation system |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Diagnostic peripheral nerve electrical stimulation system (physical object) |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Carotid sinus nerve electrical stimulation system (physical object) |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Gait-enhancement electrical stimulation system, external (physical object) |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Gait-enhancement electrical stimulation system, implantable (physical object) |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intramuscular diaphragm/phrenic nerve electrical stimulation system |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Extramuscular diaphragm/phrenic nerve electrical stimulation system (physical object) |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Analgesic TENS system |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Arthritis TENS system |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Implantable sleep apnea treatment system (physical object) |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Trigeminal nerve electrical stimulator (physical object) |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Analgesic peripheral electrical nerve stimulator system |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Non-invasive psychiatric-therapy electrical stimulation system |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Diaphragm/phrenic nerve electrical stimulation system |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Transcutaneous electrical neural stimulation system |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Transcutaneous electrical nerve stimulation wristband (physical object) |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Opioid withdrawal electrical stimulator |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intranasal lacrimal neurostimulator |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Video-camera tongue electrical stimulation system (physical object) |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hypertension control median nerve electrical stimulator |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Tremor suppression transcutaneous electrical stimulation wristband |
Has device intended site (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Friedreich ataxia (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital insensitivity to pain, anosmia, neuropathic arthropathy |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A rare hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain, general hypesthesia, diminished temperature sensitivity, and hyperhidrosis. Motor function is preserved. Skin biopsy reveals lack of cutaneous innervation except for sensory and autonomic innervation of blood vessels and sweat glands. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hereditary sensory and autonomic neuropathy type 6 (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Revision of peripheral neurostimulator electrodes (procedure) |
Procedure site - Indirect (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Revision of peripheral neurostimulator receiver (procedure) |
Procedure site - Indirect (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Posterior cord syndrome due to Friedreich ataxia |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |