Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Neurovascular assessment of upper limb |
Procedure site - Direct (attribute) |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neurovascular assessment of lower limb |
Procedure site - Direct (attribute) |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neurovascular assessment |
Procedure site - Direct (attribute) |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Assessment of peripheral neurovascular function (procedure) |
Procedure site - Direct (attribute) |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neuropsychiatric disorder due to systemic lupus erythematosus (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Dysmorphic sialidosis, congenital form |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Normal nervous system function |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neurotoxicity caused by procarbazine |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurotoxicity caused by vincristine (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurotoxicity caused by vinblastine |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurotoxicity caused by methotrexate (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurotoxicity caused by L-asparaginase |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Alpha-N-acetylgalactosaminidase deficiency |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy. |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Alpha-N-acetylgalactosaminidase deficiency type 2 |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group. Clinical signs include slowly developing intellectual disability beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis. Caused by mutations in gene AGU located on 4q34.3. Transmission is autosomal recessive. |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Fugu poisoning |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant progressive external ophthalmoplegia type 4 (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant progressive external ophthalmoplegia type 1 |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant progressive external ophthalmoplegia type 2 (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant progressive external ophthalmoplegia type 5 (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant progressive external ophthalmoplegia type 3 (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Gaucher disease with ophthalmoplegia and cardiovascular calcification |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tremor due to pheochromocytoma (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Perinatal neurological disorder |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cerebral irritability in newborn |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Perinatal apnoeic spells |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital hypertonia |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cerebral irritation |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cerebral ventricular distension |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Angelman syndrome due to maternal monosomy 15q11q13 (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Motor function |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chorea due to and following encephalitis |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Ataxia due to disorder of immune function (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Abnormal nervous system function |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neurological symptom (finding) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Nervous system infection caused by Adenovirus (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nervous system disease caused by human enterovirus (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Prenatal-onset spinal muscular atrophy with congenital bone fractures |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males. |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Combined oxidative phosphorylation defect type 30 |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked immunoneurologic disorder |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acyl-coenzyme A oxidase deficiency (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterised by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly. |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Combined oxidative phosphorylation defect type 23 |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tic disorder due to rheumatic chorea |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tic disorder due to prion disease |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tic disorder due to encephalitis (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurosyphilitic tic disorder |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infection of nervous system caused by Schistosoma (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tic disorder due to post-encephalitic syndrome |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nail dystrophy due to habit tic (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Callosity due to habit tic (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
callosité causée par le fait de mordre et/ou de mâcher |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Akathisia caused by drug (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neuroleptic-induced acute akathisia |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurotoxicity caused by insect venom (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurological disorder due to obesity |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurotoxicity caused by reptile venom (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital paraplegia (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Structure of subdivision of nervous system (body structure) |
Is a |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neurological complication of procedure (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant amyotrophic lateral sclerosis type 1 |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
An autosomal recessive hereditary neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with mutations in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22. |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Amyotrophic lateral sclerosis type 1 |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile amyotrophic lateral sclerosis type 2 (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Amyotrophic lateral sclerosis type 3 |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile amyotrophic lateral sclerosis type 5 |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Amyotrophic lateral sclerosis type 6 |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Cytogenetic location is 20p13. |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the VAPB gene on chromosome 20q13. |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Amyotrophic lateral sclerosis type 9 |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Early onset schizophrenia (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare genetic neurological disorder characterised by infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech, as well as choreic and athetoid movements, seizures, loss of deep tendon reflexes, and presence of pathological reflexes. Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination. There have been no further descriptions in the literature since 1983. |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Amyotrophic lateral sclerosis type 10 |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cerebrospinal fluid shunt sensor, port and reservoir (physical object) |
Has device intended site (attribute) |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare neurometabolic disease, due to a lipoic acid biosynthesis defect, with a highly variable phenotype, typically characterized by early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures, and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leukoencephalopathy with lesions in the periventricular/central white matter and parieto-occipital lobes. |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Isolated acquired horizontal gaze palsy (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Adult neuronal ceroid lipofuscinosis |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Dysmorphic sialidosis with renal involvement |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Adult chronic GM2 gangliosidosis (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Juvenile GM2 gangliosidosis |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Dysmorphic sialidosis, juvenile form |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Total hexosaminidase deficiency - juvenile |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Total hexosaminidase deficiency - adult |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
B variant hexosaminidase A deficiency - juvenile |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acquired horizontal gaze palsy (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ophthalmoplegia due to abetalipoproteinemia (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autoimmune generalized polymyoclonus |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Drug-induced insulin coma in nondiabetic (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Insulin coma |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Mitochondrial pyruvate carrier deficiency |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |