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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5960",
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"results": [
{
"identifier": "Smith-McCort dysplasia 1.",
"acronym": "SMC1.",
"accession": "DI-01034",
"synonyms": "SMC.; Smith-McCort dysplasia.; ",
"cross_references": "MeSH; D010009.",
"definition": "A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Smith-McCort dysplasia 2.",
"acronym": "SMC2.",
"accession": "DI-03716",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Smooth muscle dysfunction syndrome.",
"acronym": "SMDYS.",
"accession": "DI-03109",
"synonyms": "MSMDS.; Multisystemic smooth muscle dysfunction syndrome.; Mydriasis congenital with patent ductus arteriosus thoracic aortic aneurysm and vasculopathy.; ",
"cross_references": "MeSH; D015878.",
"definition": "An autosomal dominant syndrome characterized by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension. ",
"keywords": null
},
{
"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
},
{
"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": "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": "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": "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": "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": "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": "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": "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": "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 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 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 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 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 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 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 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.; "
}
]
}