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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6240&ordering=synonyms",
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{
"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": "Renal hypodysplasia/aplasia 3.",
"acronym": "RHDA3.",
"accession": "DI-05149",
"synonyms": null,
"cross_references": "MeSH; D007674.",
"definition": "A severe, autosomal dominant disease encompassing a spectrum of kidney development defects. Clinical manifestations are highly variable and include bilateral or unilateral renal agenesis, renal aplasia, hypoplasia, (cystic) dysplasia, severe obstructive uropathy, and vesicoureteral reflux. Bilateral renal agenesis is almost invariably fatal in utero or in the perinatal period. Unilateral renal agenesis can lead to future health issues including end-stage renal disease. ",
"keywords": null
},
{
"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": "Renal hypodysplasia/aplasia 2.",
"acronym": "RHDA2.",
"accession": "DI-04110",
"synonyms": null,
"cross_references": "MeSH; D007674.",
"definition": "A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy. ",
"keywords": null
},
{
"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.; "
},
{
"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": "Renal dysplasia, cystic.",
"acronym": "CYSRD.",
"accession": "DI-03361",
"synonyms": null,
"cross_references": "MeSH; D021782.",
"definition": "An anomaly of the kidney characterized by numerous renal cysts and apparent disorder of differentiation of the renal parenchyma. Kidney of affected individuals lack the normal renal bean shape, and the collection drainage system. The cystic, dysplastic kidney contains undifferentiated mesenchyme, cartilaginous tissue, and immature collecting ducts. ",
"keywords": null
},
{
"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, 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": "Renal cell carcinoma Xp11-associated.",
"acronym": "RCCX1.",
"accession": "DI-03249",
"synonyms": null,
"cross_references": "MeSH; D002292.",
"definition": "Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non- papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. RCCX1 histology shows both clear cells and papillary architecture, often with abundant psammoma bodies, although variable histologic features have been observed. ",
"keywords": null
},
{
"identifier": "Spondyloepimetaphyseal dysplasia with joint laxity, 3.",
"acronym": "SEMDJL3.",
"accession": "DI-05541",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive bone disease characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones. ",
"keywords": "KW-0242:Dwarfism.; "
}
]
}