{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=260","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=220","results":[{"identifier":"Amyotrophic lateral sclerosis 1.","acronym":"ALS1.","accession":"DI-00108","synonyms":"FALS.; Familial amyotrophic lateral sclerosis.; Lou Gehrig disease.; ","cross_references":"MeSH; D000690.","definition":"A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyotrophic lateral sclerosis 10.","acronym":"ALS10.","accession":"DI-00114","synonyms":"Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and with TDP43 inclusions.; ","cross_references":"MeSH; D000690.","definition":"A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyotrophic lateral sclerosis 11.","acronym":"ALS11.","accession":"DI-00115","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia.","acronym":"ALS12.","accession":"DI-02705","synonyms":null,"cross_references":"MeSH; D057180.","definition":"A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS12 inheritance can be autosomal dominant or autosomal recessive. There is also sporadic occurrence. ALS12 patients may develop frontotemporal dementia. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyotrophic lateral sclerosis 13.","acronym":"ALS13.","accession":"DI-02859","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia.","acronym":"ALS15.","accession":"DI-03271","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS15 may develop frontotemporal dementia. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyotrophic lateral sclerosis 16, juvenile.","acronym":"ALS16.","accession":"DI-03324","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyotrophic lateral sclerosis 18.","acronym":"ALS18.","accession":"DI-03520","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyotrophic lateral sclerosis 19.","acronym":"ALS19.","accession":"DI-03940","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyotrophic lateral sclerosis 2.","acronym":"ALS2.","accession":"DI-00109","synonyms":"ALSJ.; Amyotrophic lateral sclerosis juvenile.; Amyotrophic lateral sclerosis juvenile 2.; ","cross_references":"MeSH; D000690.","definition":"A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyotrophic lateral sclerosis 20.","acronym":"ALS20.","accession":"DI-03881","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyotrophic lateral sclerosis 21.","acronym":"ALS21.","accession":"DI-02625","synonyms":"Distal myopathy 2.; Distal myopathy with vocal cord weakness.; MPD2.; MSP5.; Multisystem proteinopathy 5.; VCPDM.; Vocal cord and pharyngeal dysfunction with distal myopathy.; ","cross_references":"MeSH; D000690.","definition":"A neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia.","acronym":"ALS22.","accession":"DI-04318","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS22 may develop frontotemporal dementia. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyotrophic lateral sclerosis 23.","acronym":"ALS23.","accession":"DI-05172","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS23 is an autosomal dominant form with incomplete penetrance. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyotrophic lateral sclerosis 24.","acronym":"ALS24.","accession":"DI-05206","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyotrophic lateral sclerosis 25.","acronym":"ALS25.","accession":"DI-05205","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS25 is an autosomal dominant form with variable adult onset and incomplete penetrance. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyotrophic lateral sclerosis 26, with or without frontotemporal dementia.","acronym":"ALS26.","accession":"DI-06002","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS26 inheritance is autosomal dominant. Some patients may develop frontotemporal dementia. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyotrophic lateral sclerosis 27, juvenile.","acronym":"ALS27.","accession":"DI-06629","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS27 is an autosomal dominant form manifesting as toe walking and gait abnormalities in early childhood. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyotrophic lateral sclerosis 28.","acronym":"ALS28.","accession":"DI-06733","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS28 is an autosomal dominant form characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness. Facial involvement is rare, but some patients may have respiratory insufficiency. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyotrophic lateral sclerosis 4.","acronym":"ALS4.","accession":"DI-00110","synonyms":"Amyotrophic lateral sclerosis juvenile 4.; Neuronopathy distal hereditary motor with pyramidal features.; ","cross_references":"MeSH; D000690.","definition":"A form of amyotrophic lateral sclerosis with childhood- or adolescent- onset, and characterized by slow disease progression and the sparing of bulbar and respiratory muscles. Amyotrophic lateral sclerosis is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "}]}