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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6220",
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"results": [
{
"identifier": "Spinocerebellar ataxia 49.",
"acronym": "SCA49.",
"accession": "DI-06383",
"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. SCA49 is an autosomal dominant, slowly progressive form characterized by ataxia, nystagmus, dysarthria, polyneuropathy, pyramidal signs, cerebellar atrophy and distinctive cerebral demyelination. Affected individuals present with horizontal and vertical gaze-evoked nystagmus and hyperreflexia as initial clinical signs. Age of disease onset ranges from the second to seventh decades, even within the same family. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Spinocerebellar ataxia 5.",
"acronym": "SCA5.",
"accession": "DI-01069",
"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. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Spinocerebellar ataxia 50.",
"acronym": "SCA50.",
"accession": "DI-06566",
"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. SCA50 is an autosomal dominant form characterized by cerebellar ataxia, oculomotor apraxia and other eye movement abnormalities, and cerebellar atrophy on brain imaging. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Spinocerebellar ataxia 6.",
"acronym": "SCA6.",
"accession": "DI-01070",
"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. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Spinocerebellar ataxia 7.",
"acronym": "SCA7.",
"accession": "DI-01071",
"synonyms": "Olivopontocerebellar atrophy III.; Olivopontocerebellar atrophy with retinal degeneration.; OPCA3.; OPCA III.; ",
"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. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Spinocerebellar ataxia 8.",
"acronym": "SCA8.",
"accession": "DI-01072",
"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. SCA8 is an autosomal dominant cerebellar ataxia (ADCA). It is caused by expansion of a CAG repeat in ATXN8, which is translated into a nearly pure polyglutamine protein which forms 1C2-positive inclusions in Purkinje cells and other neurons. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, 10.",
"acronym": "SCAR10.",
"accession": "DI-02959",
"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. SCAR10 is characterized by onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, 11.",
"acronym": "SCAR11.",
"accession": "DI-03244",
"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. SCAR11 is associated with psychomotor retardation. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, 12.",
"acronym": "SCAR12.",
"accession": "DI-04025",
"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. SCAR12 is additionally characterized by onset of generalized seizures in infancy, and delayed psychomotor development with intellectual disability. Some patients may also show spasticity. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, 13.",
"acronym": "SCAR13.",
"accession": "DI-03542",
"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. SCAR13 is characterized by delayed psychomotor development beginning in infancy. Affected individuals show mild to profound intellectual disability with poor or absent speech as well as gait and stance ataxia and hyperreflexia. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, 14.",
"acronym": "SCAR14.",
"accession": "DI-03864",
"synonyms": "SPARCA1.; Spectrin-associated autosomal recessive cerebellar ataxia 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. SCAR14 is characterized by delayed psychomotor development, severe early onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, 15.",
"acronym": "SCAR15.",
"accession": "DI-04054",
"synonyms": "Salih ataxia.; ",
"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. SCAR15 patients manifest cerebellar ataxia in early childhood and delayed motor development with delayed walking. Additional features include dysarthria, upper limb involvement, abnormal eye movements, and hyporeflexia. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, 16.",
"acronym": "SCAR16.",
"accession": "DI-04081",
"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. SCAR16 is characterized by truncal and limb ataxia resulting in gait instability. Additionally, patients may show dysarthria, nystagmus, spasticity of the lower limbs, and mild peripheral sensory neuropathy. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, 17.",
"acronym": "SCAR17.",
"accession": "DI-04290",
"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. SCAR17 features include non-progressive congenital cerebellar ataxia, mildly delayed walking with an unsteady gait and frequent falls, dysarthria, dysmetria, hypotonia in the extremities, truncal ataxia, increased reflexes in the lower extremities, and intellectual disability. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, 18.",
"acronym": "SCAR18.",
"accession": "DI-04317",
"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. SCAR18 features include progressive cerebellar atrophy, delayed psychomotor development, severely impaired gait, ocular movement abnormalities, and intellectual disability. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, 2.",
"acronym": "SCAR2.",
"accession": "DI-04657",
"synonyms": "Cerebellar hypoplasia, non-progressive Norman type.; Cerebelloparenchymal disorder III.; CPD3.; CPD III.; ",
"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. SCAR2 is characterized by onset of impaired motor development and ataxic gait in early childhood. Additional features often include loss of fine motor skills, dysarthria, nystagmus, cerebellar signs, and delayed cognitive development with intellectual disability. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, 20.",
"acronym": "SCAR20.",
"accession": "DI-04379",
"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. SCAR20 is characterized by cerebellar atrophy, ataxia, coarsened facial features, severely delayed psychomotor development with poor or absent speech, and intellectual disability. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, 21.",
"acronym": "SCAR21.",
"accession": "DI-04603",
"synonyms": "CALFAN.; Cholestasis, low GGT, acute liver failure, and neurodegeneration syndrome.; Spinocerebellar ataxia, autosomal recessive 21, with hepatopathy.; ",
"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. SCAR21 is characterized by cerebellar atrophy and ataxia with onset in early childhood. Patients also manifest recurrent episodes of liver failure, hepatic fibrosis and a peripheral neuropathy. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, 22.",
"acronym": "SCAR22.",
"accession": "DI-04713",
"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. SCAR22 patients manifest variable severity of intellectual disability associated with adult-onset cerebellar ataxia. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, 23.",
"acronym": "SCAR23.",
"accession": "DI-04714",
"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. SCAR23 patients manifest epilepsy, intellectual disability, and gait ataxia. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0991:Intellectual disability.; "
}
]
}