{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5980&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5940&ordering=synonyms","results":[{"identifier":"Spastic ataxia 1, autosomal dominant.","acronym":"SPAX1.","accession":"DI-04137","synonyms":null,"cross_references":"MeSH; D002524.","definition":"An autosomal dominant form of spastic ataxia, a progressive neurodegenerative disorder characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spastic ataxia 10, autosomal recessive.","acronym":"SPAX10.","accession":"DI-06819","synonyms":null,"cross_references":"MeSH; D002524.","definition":"A form of spastic ataxia, a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. SPAX10 is a slowly progressive form with age at onset ranging from infancy to adulthood. Some patients show cerebellar atrophy on brain imaging. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spastic ataxia 2, autosomal recessive.","acronym":"SPAX2.","accession":"DI-04016","synonyms":null,"cross_references":"MeSH; D002524.","definition":"A neurologic disorder characterized by cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spastic ataxia 3, autosomal recessive.","acronym":"SPAX3.","accession":"DI-04017","synonyms":null,"cross_references":"MeSH; D002524.","definition":"A neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia. Other variable features include dysarthria, dysmetria, mild cognitive impairment, urinary urgency and dystonic positioning. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spastic ataxia 4, autosomal recessive.","acronym":"SPAX4.","accession":"DI-02952","synonyms":null,"cross_references":"MeSH; D002524.","definition":"A slowly progressive neurodegenerative disease characterized by cerebellar ataxia, spastic paraparesis, dysarthria, and optic atrophy. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spastic ataxia 5, autosomal recessive.","acronym":"SPAX5.","accession":"DI-03374","synonyms":null,"cross_references":"MeSH; D002524.","definition":"A neurodegenerative disorder characterized by early onset spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy.","acronym":"SPAX8.","accession":"DI-05033","synonyms":null,"cross_references":"MeSH; D020279.","definition":"An autosomal recessive neurodegenerative disorder characterized by early-onset hypotonia which progresses to a pyramidal syndrome with ataxia, spasticity, hyperreflexia, weakness and loss of ambulation. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy. ","keywords":"KW-0523:Neurodegeneration.; KW-1026:Leukodystrophy.; "},{"identifier":"Spastic ataxia 9, autosomal recessive.","acronym":"SPAX9.","accession":"DI-05572","synonyms":null,"cross_references":"MeSH; D015419.","definition":"An autosomal recessive disorder characterized by onset of spastic ataxia in the first years of life. Clinical features include motor neuropathy, cerebellar atrophy, spastic paraparesis, intellectual disability, slow ocular saccades, axial hypotonia, distal muscle weakness and atrophy, and pyramidal symptoms, including hyperreflexia and extensor plantar responses. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Retinitis pigmentosa 65.","acronym":"RP65.","accession":"DI-06653","synonyms":null,"cross_references":"MeSH; D012174.","definition":"An autosomal recessive form of retinitis pigmentosa, 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. RP65 is an adult- onset form, with night blindness developing in the second to fourth decades of life. ","keywords":"KW-0682:Retinitis pigmentosa.; "},{"identifier":"Spastic paraplegia 10, autosomal dominant.","acronym":"SPG10.","accession":"DI-02319","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":"Retinitis pigmentosa 64.","acronym":"RP64.","accession":"DI-03356","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 12, autosomal dominant.","acronym":"SPG12.","accession":"DI-03410","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 13, autosomal dominant.","acronym":"SPG13.","accession":"DI-01039","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":"Retinitis pigmentosa 62.","acronym":"RP62.","accession":"DI-03235","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":"Retinitis pigmentosa 61.","acronym":"RP61.","accession":"DI-03234","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 18A, autosomal dominant.","acronym":"SPG18A.","accession":"DI-06770","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. SPG18A is a pure form. Age at onset of symptoms varies considerably from childhood to adulthood. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Retinitis pigmentosa 60.","acronym":"RP60.","accession":"DI-03116","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":"Retinitis pigmentosa 59.","acronym":"RP59.","accession":"DI-03036","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":"Retinitis pigmentosa 58.","acronym":"RP58.","accession":"DI-02909","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":"Retinitis pigmentosa 57.","acronym":"RP57.","accession":"DI-02908","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.; "}]}