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{
"identifier": "Spastic paraplegia 39, autosomal recessive.",
"acronym": "SPG39.",
"accession": "DI-01049",
"synonyms": "NTEMND.; NTE-related motor neuron disorder.; ",
"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. SPG39 is associated with a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lower extremity muscles. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 3, autosomal dominant.",
"acronym": "SPG3.",
"accession": "DI-01035",
"synonyms": "Familial spastic paraplegia autosomal dominant 1.; FSP1.; SPG3A.; Strumpell disease.; Strumpell-Lorrain syndrome.; ",
"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 42, autosomal dominant.",
"acronym": "SPG42.",
"accession": "DI-01042",
"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 43, autosomal recessive.",
"acronym": "SPG43.",
"accession": "DI-03971",
"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. SP43 is characterized by childhood onset of progressive spasticity affecting the lower and upper limbs. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 44, autosomal recessive.",
"acronym": "SPG44.",
"accession": "DI-02587",
"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 45, autosomal recessive.",
"acronym": "SPG45.",
"accession": "DI-04024",
"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. Some SPG45 patients manifest intellectual disability, contractures and learning disability. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 46, autosomal recessive.",
"acronym": "SPG46.",
"accession": "DI-03745",
"synonyms": null,
"cross_references": "MeSH; D015419.",
"definition": "A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 47, autosomal recessive.",
"acronym": "SPG47.",
"accession": "DI-03145",
"synonyms": "Cerebral palsy, spastic quadriplegic 5.; CPSQ5.; ",
"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. SPG47 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe intellectual disability with poor or absent speech development. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 48, autosomal recessive.",
"acronym": "SPG48.",
"accession": "DI-02933",
"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 4, autosomal dominant.",
"acronym": "SPG4.",
"accession": "DI-01036",
"synonyms": "Familial spastic paraplegia autosomal dominant 2.; FSP2.; ",
"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 50, autosomal recessive.",
"acronym": "SPG50.",
"accession": "DI-02560",
"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. SPG50 affected individuals present postnatally with early infantile hypotonia, delayed psychomotor development, strabismus, lack of independent walking and severe intellectual disability. They develop progressive spasticity of all limbs with generalized hypertonia, hyperreflexia, and extensor plantar responses by the end of the first year of life. Speech is absent or limited. Pseudobulbar signs, such as drooling, stereotypic laughter, and exaggerated jaw jerk, are part of the clinical picture. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 51, autosomal recessive.",
"acronym": "SPG51.",
"accession": "DI-03061",
"synonyms": "Cerebral palsy, spastic quadriplegic 4.; CPSQ4.; ",
"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. SPG51 is a non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 52, autosomal recessive.",
"acronym": "SPG52.",
"accession": "DI-03146",
"synonyms": "Cerebral palsy, spastic quadriplegic 6.; CPSQ6.; ",
"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. SPG52 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe intellectual disability with poor or absent speech development. Some patients may have seizures. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 53, autosomal recessive.",
"acronym": "SPG53.",
"accession": "DI-03607",
"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. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. SPG53 is characterized by pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 54, autosomal recessive.",
"acronym": "SPG54.",
"accession": "DI-03677",
"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. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. SPG54 patients have delayed psychomotor development, intellectual disability, and early- onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 55, autosomal recessive.",
"acronym": "SPG55.",
"accession": "DI-03679",
"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. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum.",
"acronym": "SPG56.",
"accession": "DI-03680",
"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. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. In SPG56, upper limbs are often also affected. Some SPG56 patients may have a subclinical axonal neuropathy; others also have pseudoxanthoma elasticum. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 57, autosomal recessive.",
"acronym": "SPG57.",
"accession": "DI-04029",
"synonyms": null,
"cross_references": "MeSH; D015419.",
"definition": "A complicated 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. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 5A, autosomal recessive.",
"acronym": "SPG5A.",
"accession": "DI-01043",
"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 61, autosomal recessive.",
"acronym": "SPG61.",
"accession": "DI-04045",
"synonyms": null,
"cross_references": "MeSH; D015419.",
"definition": "A complicated form of spastic paraplegia with polysensory and motor neuropathy. Spastic paraplegia is 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.; "
}
]
}