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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6200&ordering=identifier",
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"results": [
{
"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": "Spinocerebellar ataxia 29.",
"acronym": "SCA29.",
"accession": "DI-03660",
"synonyms": "ACV.; Aplasia of cerebellar vermis.; Autosomal dominant congenital nonprogressive cerebellar ataxia.; Cerebellar vermis aplasia.; CNPCA.; ",
"cross_references": "MeSH; D020754.",
"definition": "An autosomal dominant, congenital spinocerebellar ataxia characterized by early motor delay, hypotonia and mild cognitive delay. Affected individuals develop a very slowly progressive or non-progressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Spinocerebellar ataxia 3.",
"acronym": "SCA3.",
"accession": "DI-01068",
"synonyms": "Azorean neurologic disease.; Machado-Joseph disease.; MJD.; Nigrospinodentatal degeneration.; Spinocerebellar atrophy.; ",
"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 cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA3 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. The molecular defect in SCA3 is the a CAG repeat expansion in ATX3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Spinocerebellar ataxia 31.",
"acronym": "SCA31.",
"accession": "DI-01060",
"synonyms": "Pure spinocerebellar ataxia Japanese type.; SCA4 pure Japanese type.; Spinocerebellar ataxia 16q22-linked.; ",
"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. SCA31 belongs to the autosomal dominant cerebellar ataxias type III (ADCA III) which are characterized by pure cerebellar ataxia without additional signs. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Spinocerebellar ataxia 34.",
"acronym": "SCA34.",
"accession": "DI-04188",
"synonyms": "Erythrokeratodermia with ataxia.; ",
"cross_references": "MeSH; D056266.",
"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. SCA34 is an autosomal dominant form characterized by the association of progressive cerebellar ataxia with erythrokeratodermia variabilis. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"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": "Spinocerebellar ataxia 4.",
"acronym": "SCA4.",
"accession": "DI-06803",
"synonyms": "Spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy.; ",
"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. SCA4 is characterized by the onset of balance disturbances and gait and limb ataxia usually in the fourth decade, although earlier onset in the teens or twenties has been reported. There is evidence of genetic anticipation within families. Inheritance is autosomal dominant. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"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.; "
},
{
"identifier": "Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits.",
"acronym": "SCA42ND.",
"accession": "DI-05309",
"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. SCA42ND is an early- onset, severe form associated with motor and cognitive impairment, cerebellar atrophy as well as variable features such as facial dysmorphisms, digital anomalies, microcephaly and epilepsy. SCA42ND inheritance is autosomal dominant. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"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": "Spinocerebellar ataxia 44.",
"acronym": "SCA44.",
"accession": "DI-05091",
"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. SCA44 is a slowly progressive, autosomal dominant form. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Spinocerebellar ataxia 45.",
"acronym": "SCA45.",
"accession": "DI-05143",
"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. SCA45 is a slowly progressive, autosomal dominant form with onset in adulthood. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Spinocerebellar ataxia 46.",
"acronym": "SCA46.",
"accession": "DI-05144",
"synonyms": "Spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy.; ",
"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. SCA46 is a slowly progressive, autosomal dominant form with onset in adulthood. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Spinocerebellar ataxia 47.",
"acronym": "SCA47.",
"accession": "DI-05237",
"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. SCA47 is an autosomal dominant disease with a highly variable phenotype and incomplete penetrance. Clinical features include developmental disability, ataxia, and seizures. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Spinocerebellar ataxia 48.",
"acronym": "SCA48.",
"accession": "DI-05368",
"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. SCA48 is an autosomal dominant neurodegenerative disease characterized by onset in mid- adulthood of progressive cognitive decline and gait ataxia, and vermian and hemispheric cerebellar atrophy. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
}
]
}