{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6040&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6000&ordering=synonyms","results":[{"identifier":"Spastic paraplegia 75, autosomal recessive.","acronym":"SPG75.","accession":"DI-04593","synonyms":null,"cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG75 is characterized by onset in early childhood and is associated with mild to moderate cognitive impairment. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Spastic paraplegia 76, autosomal recessive.","acronym":"SPG76.","accession":"DI-04733","synonyms":null,"cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Spastic paraplegia 77, autosomal recessive.","acronym":"SPG77.","accession":"DI-04770","synonyms":null,"cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Spastic paraplegia 78, autosomal recessive.","acronym":"SPG78.","accession":"DI-04938","synonyms":null,"cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Spastic paraplegia 79A, autosomal dominant, with ataxia.","acronym":"SPG79A.","accession":"DI-06574","synonyms":null,"cross_references":"MeSH; D015418.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG79A is a slowly progressive form characterized by late-onset spastic ataxia, neuropathy, and often optic atrophy. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Retinitis pigmentosa 43.","acronym":"RP43.","accession":"DI-03032","synonyms":null,"cross_references":"MeSH; D012174.","definition":"A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ","keywords":"KW-0682:Retinitis pigmentosa.; "},{"identifier":"Spastic paraplegia 8, autosomal dominant.","acronym":"SPG8.","accession":"DI-01038","synonyms":null,"cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Spastic paraplegia 80, autosomal dominant.","acronym":"SPG80.","accession":"DI-05554","synonyms":null,"cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Spastic paraplegia 81, autosomal recessive.","acronym":"SPG81.","accession":"DI-05755","synonyms":null,"cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG81 is a complicated form characterized by white matter abnormalities, hypomyelination with progressive white matter loss, delayed motor development, progressive spasticity, and impaired intellectual development and speech delay. Additional features may include bifid uvula, microcephaly, seizures, and variable ocular anomalies. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Spastic paraplegia 82, autosomal recessive.","acronym":"SPG82.","accession":"DI-05756","synonyms":null,"cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG82 is a complicated form characterized by global developmental delay with regression, spastic para- or tetraparesis, epilepsy and progressive cerebral and cerebellar atrophy. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Spermatogenic failure 34.","acronym":"SPGF34.","accession":"DI-05351","synonyms":null,"cross_references":"MeSH; D007248.","definition":"An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple abnormalities of sperm flagellum, including irregular-caliber, short, coiled, or absent flagella. ","keywords":null},{"identifier":"Spermatogenic failure 35.","acronym":"SPGF35.","accession":"DI-05484","synonyms":null,"cross_references":"MeSH; D007248.","definition":"An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple abnormalities of sperm flagellum and severely impaired spermatozoa motility. ","keywords":null},{"identifier":"Spastic paraplegia 83, autosomal recessive.","acronym":"SPG83.","accession":"DI-05923","synonyms":null,"cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG83 is characterized by juvenile onset of progressive lower limb spasticity resulting in gait instability. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Spastic paraplegia 84, autosomal recessive.","acronym":"SPG84.","accession":"DI-06273","synonyms":null,"cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG84 is characterized by onset of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity in the first 2 decades of life. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Spastic paraplegia 85, autosomal recessive.","acronym":"SPG85.","accession":"DI-06303","synonyms":null,"cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG85 is an autosomal recessive form characterized by onset of motor symptoms in the first few years of life. Patients may have upper limb involvement and demonstrate axonal polyneuropathy. Additional features include optic atrophy, dysarthria, dysphagia, ataxia, and urinary incontinence. Brain imaging may show cerebellar atrophy. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Spastic paraplegia 86, autosomal recessive.","acronym":"SPG86.","accession":"DI-06330","synonyms":null,"cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG86 is an autosomal recessive form associated with impaired intellectual development, poor or absent speech, and behavioral abnormalities. Brain imaging shows thin corpus callosum and white matter abnormalities. Rare patients may have seizures. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Spastic paraplegia 87, autosomal recessive.","acronym":"SPG87.","accession":"DI-06459","synonyms":null,"cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG87 is characterized by onset of lower limb spasticity in infancy or early childhood, and lack of upper limbs and bulbar regions involvement. Affected individuals have mildly delayed walking, spastic gait, and hyperreflexia. Some patients may also have mild intellectual disability or speech problems. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Spastic paraplegia 88, autosomal dominant.","acronym":"SPG88.","accession":"DI-06543","synonyms":null,"cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG88 is characterized by onset of symptoms in the first year of life. Most SPG88 patients have a pure form of the disorder, although rarely patients may manifest additional features, including peripheral neuropathy, speech delay, attention deficit-hyperactivity disorder, and non-specific brain imaging abnormalities. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Spastic paraplegia 89, autosomal recessive.","acronym":"SPG89.","accession":"DI-06689","synonyms":null,"cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or weakness and stiffness may spread to other parts of the body. SPG89 affected individuals show delayed motor development, abnormal spastic gait, and hyperreflexia of the lower limbs. Some patients may have mildly impaired intellectual development or learning difficulties. SPG89 disease onset is in the first years of life. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Spastic paraplegia 90A, autosomal dominant.","acronym":"SPG90A.","accession":"DI-06702","synonyms":null,"cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or weakness and stiffness may spread to other parts of the body. SPG90A affected individuals have motor impairment and progressive lower extremity spasticity as well as neurologic findings, cognitive impairment, and hearing loss. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "}]}