{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6200&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6160&ordering=synonyms","results":[{"identifier":"Spinocerebellar ataxia 23.","acronym":"SCA23.","accession":"DI-02949","synonyms":null,"cross_references":"MeSH; D020754.","definition":"Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA23 is an adult-onset autosomal dominant form characterized by slowly progressive gait and limb ataxia, with variable additional features, including peripheral neuropathy and dysarthria. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 25.","acronym":"SCA25.","accession":"DI-06450","synonyms":null,"cross_references":"MeSH; D020754.","definition":"An autosomal dominant form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA25 is characterized by the onset of lower limb ataxia and gait difficulties in the first few decades of life, although later onset has been reported. There is incomplete penetrance and variable expressivity, even within families. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 26.","acronym":"SCA26.","accession":"DI-03933","synonyms":null,"cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Retinal dystrophy and obesity.","acronym":"RDOB.","accession":"DI-04298","synonyms":null,"cross_references":"MeSH; D058499.","definition":"A disease characterized by obesity, night blindness, decreased visual acuity, and electrophysiological features of a rod cone dystrophy. ","keywords":"KW-0550:Obesity.; "},{"identifier":"Spinocerebellar ataxia 27B, late-onset.","acronym":"SCA27B.","accession":"DI-06556","synonyms":null,"cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA27B is an autosomal dominant, slowly progressive form characterized by the onset of gait and appendicular ataxia in adulthood. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 28.","acronym":"SCA28.","accession":"DI-02675","synonyms":null,"cross_references":"MeSH; D020754.","definition":"Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA28 is an autosomal dominant cerebellar ataxia (ADCA) with a slow progressive course and no evidence of sensory involvement or cognitive impairment. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Retinal dystrophy and microvillus inclusion disease.","acronym":"RDMVID.","accession":"DI-06172","synonyms":null,"cross_references":"MeSH; D058499.","definition":"An autosomal recessive disease characterized by early-onset, severe retinal dystrophy associated with intractable congenital diarrhea. Intestinal biopsies show loss of microvilli, microvillus inclusions, and accumulation of subapical vesicles in villus enterocytes. ","keywords":null},{"identifier":"Spinocerebellar ataxia 43.","acronym":"SCA43.","accession":"DI-04796","synonyms":null,"cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA43 is a slowly progressive, autosomal dominant form. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spondyloocular syndrome.","acronym":"SOS.","accession":"DI-04546","synonyms":null,"cross_references":"MeSH; D019465.","definition":"A syndrome characterized by cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, osteoporosis, immobile spine with thoracic kyphosis and reduced lumbal lordosis. ","keywords":null},{"identifier":"Retinal cone dystrophy 4.","acronym":"RCD4.","accession":"DI-02262","synonyms":null,"cross_references":"MedGen; C1864849.","definition":"Characterized by minimal symptoms except for slowly progressive reduction in visual acuity. ","keywords":null},{"identifier":"Retinal arterial macroaneurysm with supravalvular pulmonic stenosis.","acronym":"RAMSVPS.","accession":"DI-03265","synonyms":null,"cross_references":"MeSH; D012164.","definition":"An autosomal recessive condition characterized by the bilateral appearance of 'beading' along the major retinal arterial trunks, with the subsequent formation of macroaneurysms. Affected individuals also have supravalvular pulmonic stenosis, often requiring surgical correction. ","keywords":null},{"identifier":"Restless legs syndrome 7.","acronym":"RLS7.","accession":"DI-02589","synonyms":null,"cross_references":"MeSH; D012148.","definition":"A neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation. The majority of patients also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly occurring limb movements that occur during sleep. ","keywords":null},{"identifier":"Spinocerebellar ataxia 35.","acronym":"SCA35.","accession":"DI-03054","synonyms":null,"cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA35 patients commonly show upper limb involvement and torticollis. There is no cognitive impairment. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 36.","acronym":"SCA36.","accession":"DI-03245","synonyms":null,"cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA36 is characterized by complicated clinical features, with ataxia as the first symptom, followed by characteristic late-onset involvement of the motor neuron system. Ataxic symptoms, such as gait and truncal instability, ataxic dysarthria, and uncoordinated limbs, start in late forties to fifties. Characteristically, affected individuals exhibit tongue atrophy with fasciculation. Progression of motor neuron involvement is typically limited to the tongue and main proximal skeletal muscles in both upper and lower extremities. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 37.","acronym":"SCA37.","accession":"DI-05050","synonyms":null,"cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA37 is an autosomal dominant form characterized by adult-onset of slowly progressive gait instability, frequent falls, and dysarthria associated with cerebellar atrophy on brain imaging. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 38.","acronym":"SCA38.","accession":"DI-04196","synonyms":null,"cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA38 is an autosomal dominant form characterized by adult-onset of slowly progressive gait ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Restless legs syndrome 6.","acronym":"RLS6.","accession":"DI-02843","synonyms":null,"cross_references":"MeSH; D012148.","definition":"A neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation. The majority of patients also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly occurring limb movements that occur during sleep. ","keywords":null},{"identifier":"Spinocerebellar ataxia 40.","acronym":"SCA40.","accession":"DI-04242","synonyms":null,"cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA40 is an autosomal dominant, slowly progressive form. Brain MRI shows pontocerebellar atrophy along with a global reduction in brain volume. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 41.","acronym":"SCA41.","accession":"DI-04448","synonyms":null,"cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 42.","acronym":"SCA42.","accession":"DI-04644","synonyms":null,"cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA42 is a slowly progressive, autosomal dominant form with variable severity. ","keywords":"KW-0950:Spinocerebellar ataxia.; "}]}