{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6240&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6200&ordering=identifier","results":[{"identifier":"Spinocerebellar ataxia, autosomal recessive, 24.","acronym":"SCAR24.","accession":"DI-04847","synonyms":null,"cross_references":"MeSH; D013132.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR24 patients manifest gait instability and speech difficulties with onset in childhood. Clinical features include gait and limb ataxia, dysarthria, nystagmus, cataracts, and cerebellar atrophy on brain imaging. ","keywords":"KW-0523:Neurodegeneration.; KW-0991:Intellectual disability.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive, 25.","acronym":"SCAR25.","accession":"DI-05044","synonyms":null,"cross_references":"MeSH; D013132.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR25 patients manifest delayed psychomotor development with delayed walking, truncal ataxia, dysmetria, and nystagmus, Cerebellar hypoplasia is seen on brain imaging. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive, 26.","acronym":"SCAR26.","accession":"DI-05068","synonyms":null,"cross_references":"MeSH; D013132.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR26 is a progressive disease characterized by gait and limb ataxia, loss of independent ambulation, oculomotor apraxia, and peripheral neuropathy with distal muscle weakness and areflexia. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive, 27.","acronym":"SCAR27.","accession":"DI-05515","synonyms":null,"cross_references":"MeSH; D013132.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR27 is a progressive disease characterized by gait difficulties, eye movement abnormalities, dysarthria, and difficulty writing. Some patients may lose independent ambulation. Additional features include spasticity of the lower limbs and cognitive impairment. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive, 28.","acronym":"SCAR28.","accession":"DI-05783","synonyms":null,"cross_references":"MeSH; D013132.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR28 patients manifest mild motor developmental delay, gait ataxia, and dysarthria. Some patients show mildly impaired intellectual development. Disease onset is in early childhood. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive, 29.","acronym":"SCAR29.","accession":"DI-06157","synonyms":"Barakat-Van Ham-Kaya syndrome.; BAVAHAKA.; NEDHCA.; Neurodevelopmental disorder with hypotonia and cerebellar ataxia.; ","cross_references":"MeSH; D013132.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR29 is a progressive disease characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive, 30.","acronym":"SCAR30.","accession":"DI-06158","synonyms":null,"cross_references":"MeSH; D013132.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR30 is a progressive disease characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia. Affected individuals may also have psychiatric abnormalities. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive, 31.","acronym":"SCAR31.","accession":"DI-06159","synonyms":null,"cross_references":"MeSH; D013132.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR30 is characterized by global developmental delay, hypotonia, variably impaired intellectual and language development, ataxic gait, tremor, and dysarthria. Most affected individuals have optic atrophy. Additional features may include retinitis pigmentosa, sensorineural deafness, dysmorphic facial features, and possibly endocrine dysfunction. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive, 32.","acronym":"SCAR32.","accession":"DI-06413","synonyms":null,"cross_references":"MeSH; D013132.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR32 is characterized by the onset of gait ataxia in the second or third decades of life. Other classic features include upper limb ataxia, oculomotor signs, dysphagia, and dysarthria. Some patients may have hyper- or hypokinetic movement abnormalities. Brain imaging shows cerebellar atrophy. Atrophy can extend to the brainstem and medullary olives. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive 4.","acronym":"SCAR4.","accession":"DI-05339","synonyms":"SCA24.; SCASI.; Spinocerebellar ataxia 24.; Spinocerebellar ataxia with saccadic intrusions.; ","cross_references":"MeSH; D013132.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR4 patients manifest ataxic gait with spasticity and hyperreflexia of the lower limbs resulting in difficulty walking. The age at onset is highly variable, ranging from early childhood to adulthood. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive, 7.","acronym":"SCAR7.","accession":"DI-03994","synonyms":null,"cross_references":"MeSH; D013132.","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. SCAR7 patients show difficulty walking and writing, dysarthria, limb ataxia, and cerebellar atrophy. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive, 8.","acronym":"SCAR8.","accession":"DI-01062","synonyms":"ARCA1.; Ataxia recessive of Beauce.; Autosomal recessive cerebellar ataxia type 1.; ","cross_references":"MeSH; D013132.","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. SCAR8 is an autosomal recessive form. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1.","acronym":"SCAN1.","accession":"DI-01064","synonyms":null,"cross_references":"MeSH; D013132.","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. SCAN1 is an autosomal recessive cerebellar ataxia (ARCA) associated with peripheral axonal motor and sensory neuropathy, distal muscular atrophy, pes cavus and steppage gait as seen in Charcot-Marie-Tooth neuropathy. All affected individuals have normal intelligence. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2.","acronym":"SCAN2.","accession":"DI-01061","synonyms":"AOA2.; Ataxia-ocular apraxia 2.; Ataxia-oculomotor apraxia 2.; SCAR1.; Spinocerebellar ataxia, autosomal recessive, 1.; ","cross_references":"MeSH; D013132.","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. SCAN2 is an autosomal recessive form associated with peripheral neuropathy and elevated serum alpha-fetoprotein, immunoglobulins and, less commonly, creatine kinase levels. Some SCAN2 patients manifest oculomotor apraxia. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.","acronym":"SCAN3.","accession":"DI-05534","synonyms":null,"cross_references":"MeSH; D013132.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN3 is an autosomal recessive disorder characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy and distal sensory impairment due to an axonal peripheral neuropathy. Affected individuals have gait disturbances and sometimes manual dexterity difficulties, as well as cerebellar ataxia associated with cerebellar atrophy on brain imaging. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Spinocerebellar ataxia with epilepsy.","acronym":"SCAE.","accession":"DI-04684","synonyms":"Epilepsy, progressive myoclonic 5.; EPM5.; Progressive myoclonic epilepsy with sensory ataxic neuropathy.; ","cross_references":"MeSH; D020191.","definition":"An autosomal recessive syndrome characterized by headaches and/or seizures manifesting in childhood or adolescence, cerebellar and sensory ataxia, dysarthria, and myoclonus manifesting in early adulthood. Neuropathological findings include spinocerebellar degeneration associated with cortical neuronal degeneration in advanced cases. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; KW-0887:Epilepsy.; "},{"identifier":"Spinocerebellar ataxia, X-linked 1.","acronym":"SCAX1.","accession":"DI-03640","synonyms":"Olivopontocerebellar atrophy X-linked.; OPCAX.; OPCA X-linked.; ","cross_references":"MeSH; D009849.","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. SCAX1 is characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spitz nevus.","acronym":"SPITZN.","accession":"DI-04452","synonyms":"Nevus, spindle cell and epithelioid.; Nevus, Spitz.; Spindle cell and epithelioid nevus.; ","cross_references":"MeSH; D018332.","definition":"A benign melanocytic neoplasm composed of epithelioid or spindle cell melanocytes. Spitz nevi usually present as solitary skin tumors but can occur in multiple patterns, having agminated, dermatomal, and disseminated forms. ","keywords":null},{"identifier":"Split-foot malformation with mesoaxial polydactyly.","acronym":"SFMMP.","accession":"DI-04698","synonyms":null,"cross_references":"MeSH; D017689.","definition":"An autosomal recessive disorder characterized by a split-foot defect, mesoaxial polydactyly, nail abnormalities of the hands, and sensorineural hearing loss. ","keywords":null},{"identifier":"Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive.","acronym":"SHFM1D.","accession":"DI-03391","synonyms":"Congenital deafness and split hands and feet.; ","cross_references":"MeSH; D017880.","definition":"A disease characterized by the association of split-hand/foot malformation with deafness. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have intellectual disability, ectodermal and craniofacial findings, and orofacial clefting. ","keywords":"KW-0209:Deafness.; "}]}