HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=780&ordering=-identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=740&ordering=-identifier",
"results": [
{
"identifier": "Spastic paraplegia 11, autosomal recessive.",
"acronym": "SPG11.",
"accession": "DI-01045",
"synonyms": "ARHSP-TCC.; Autosomal recessive spastic paraplegia with thinning of corpus callosum.; HSP-TCC.; Spastic paraplegia autosomal recessive complicated with thin corpus callosum.; Spastic paraplegia autosomal recessive with mental impairment and thin corpus callosum.; ",
"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 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": "Spasticity, childhood-onset, with hyperglycinemia.",
"acronym": "SPAHGC.",
"accession": "DI-04680",
"synonyms": null,
"cross_references": "MeSH; D020158.",
"definition": "An autosomal recessive disorder characterized by childhood-onset of spasticity, spinal lesions, leukodystrophy, optic atrophy in some patients, non-ketotic hyperglycinemia, and defective enzymatic glycine cleavage. Glycine levels in the cerebrospinal fluid are mildly increased in some but not all patients. The increase is less pronounced than in patients with classic non-ketotic hyperglycinemia. ",
"keywords": null
},
{
"identifier": "Spastic ataxia Charlevoix-Saguenay type.",
"acronym": "SACS.",
"accession": "DI-01259",
"synonyms": "ARSACS.; Autosomal recessive spastic ataxia of Charlevoix-Saguenay.; Spastic ataxia 6, autosomal recessive.; SPAX6.; ",
"cross_references": "MeSH; D002524.",
"definition": "A neurodegenerative disease characterized by early-onset cerebellar ataxia, spasticity, retinal hypermyelination, pyramidal signs, and both axonal and demyelinating neuropathy with loss of sensory nerve conduction and reduced motor conduction velocities. Other features include dysarthria, distal muscle wasting, nystagmus, defect in conjugate pursuit ocular movements, retinal striation (from prominent retinal nerves) obscuring the retinal blood vessels in places, and the frequent presence of mitral valve prolapse. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"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": "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 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 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 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 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 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": "Sotos syndrome.",
"acronym": "SOTOS.",
"accession": "DI-02318",
"synonyms": "Cerebral gigantism.; Chromosome 5q35 deletion syndrome.; SOTOS1.; Sotos syndrome 1.; ",
"cross_references": "MeSH; D058495.",
"definition": "An autosomal dominant, childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, intellectual disability, advanced bone age, and abnormal craniofacial morphology including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. Common oral findings include: premature eruption of teeth; high, arched palate; pointed chin and, more rarely, prognathism. ",
"keywords": null
},
{
"identifier": "Sorsby fundus dystrophy.",
"acronym": "SFD.",
"accession": "DI-02317",
"synonyms": "Fundus dystrophy, pseudoinflammatory, of Sorsby.; Macular dystrophy, hemorrhagic.; ",
"cross_references": "MeSH; D008268.",
"definition": "Rare autosomal dominant macular disorder with an age of onset in the fourth decade. It is characterized by loss of central vision from subretinal neovascularization and atrophy of the ocular tissues. Generally, macular disciform degeneration develops in the patients eye within 6 months to 6 years. ",
"keywords": null
},
{
"identifier": "Solitary median maxillary central incisor.",
"acronym": "SMMCI.",
"accession": "DI-02316",
"synonyms": null,
"cross_references": "MedGen; C1840235.",
"definition": "Rare dental anomaly characterized by the congenital absence of one maxillary central incisor. ",
"keywords": null
},
{
"identifier": "Sodium-dependent multivitamin transporter deficiency.",
"acronym": "SMVTD.",
"accession": "DI-05892",
"synonyms": "NERIB.; Neurodegeneration, infantile-onset, biotin-responsive.; SMVT deficiency.; ",
"cross_references": "MeSH; D020271.",
"definition": "An autosomal recessive multisystemic metabolic disorder characterized by early infantile onset, progressive neurodegeneration, global developmental delay, and developmental regression with loss of early motor and cognitive milestones. Additional variable features include seizures, ataxia, spasticity, peripheral neuropathy, immune defects, and osteopenia. Treatment with biotin, pantothenic acid, and lipoate may result in clinical improvement. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Snowflake vitreoretinal degeneration.",
"acronym": "SVD.",
"accession": "DI-02314",
"synonyms": null,
"cross_references": "MedGen; C1860405.",
"definition": "Developmental and progressive hereditary eye disorder that affects multiple tissues within the eye. Diagnostic features of SVD include fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment. ",
"keywords": null
},
{
"identifier": "Snijders Blok-Fisher syndrome.",
"acronym": "SNIBFIS.",
"accession": "DI-05670",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia, intellectual disability, autistic features, impairments in speech and language skills, and dysmorphic features including abnormal, cupped, or prominent ears and ocular anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Snijders Blok-Campeau syndrome.",
"acronym": "SNIBCPS.",
"accession": "DI-05430",
"synonyms": "IDDMSF.; Intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by intellectual disability with a wide range of severity, developmental delay, and impaired speech and language skills. Speech-related problems include dysarthria, speech apraxia, oromotor problems, and stuttering. Additional clinical features are macrocephaly, characteristic facial features such as prominent forehead and hypertelorism, hypotonia, and joint laxity. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Sneddon syndrome.",
"acronym": "SNDNS.",
"accession": "DI-04206",
"synonyms": "Livedo reticularis and cerebrovascular accidents.; ",
"cross_references": "MeSH; D018860.",
"definition": "An autosomal recessive, systemic non-inflammatory thrombotic vasculopathy characterized by the association of livedo racemosa, and in some cases livedo reticularis, with cerebrovascular disease. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin affecting the legs, the arms, the buttocks and the trunk; livedo reticularis is limited to the extremities and is visible only in the cold. Cerebrovascular features include recurrent transient ischemic attacks, infarcts, and rarely spinal strokes or intracranial or subarachnoid hemorrhages. Headache and vertigo may precede the onset of livedo racemosa and cerebrovascular manifestations by several years. Rare neurologic symptoms include seizures, chorea, or myelopathies. ",
"keywords": null
}
]
}