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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=420&ordering=-identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=380&ordering=-identifier",
"results": [
{
"identifier": "Subcortical band heterotopia.",
"acronym": "SBH.",
"accession": "DI-01094",
"synonyms": "Double cortex.; SCLH.; Subcortical laminar heterotopia.; ",
"cross_references": "MeSH; D054221.",
"definition": "SBH is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Stuve-Wiedemann syndrome 2.",
"acronym": "STWS2.",
"accession": "DI-06347",
"synonyms": null,
"cross_references": "MeSH; D054969.",
"definition": "A form of Stuve-Wiedemann syndrome, an autosomal recessive disease characterized by bowing of tubular bones and other skeletal and craniofacial abnormalities, respiratory distress, feeding difficulties, and hyperthermic episodes. Most patients do not survive past infancy. STWS2 patients manifest skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. ",
"keywords": null
},
{
"identifier": "Stuve-Wiedemann syndrome 1.",
"acronym": "STWS1.",
"accession": "DI-02344",
"synonyms": "Schwartz-Jampel syndrome, neonatal.; Schwartz-Jampel syndrome type 2.; SJS2.; Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.; SWS.; ",
"cross_references": "MeSH; D054969.",
"definition": "A form of Stuve-Wiedemann syndrome, an autosomal recessive disease characterized by bowing of tubular bones and other skeletal and craniofacial abnormalities, respiratory distress, feeding difficulties, and hyperthermic episodes. Most patients do not survive past infancy. ",
"keywords": null
},
{
"identifier": "Stuttering, familial persistent 1.",
"acronym": "STUT1.",
"accession": "DI-04675",
"synonyms": "Stammering.; ",
"cross_references": "MeSH; D013342.",
"definition": "A familial form of stuttering, a disturbance in the normal fluency and time patterning of speech, characterized by frequent repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks. STUT1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Sturge-Weber syndrome.",
"acronym": "SWS.",
"accession": "DI-03787",
"synonyms": null,
"cross_references": "MeSH; D013341.",
"definition": "A syndrome characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common features are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, intellectual disability, and recurrent stroke- like episodes. ",
"keywords": null
},
{
"identifier": "Structural heart defects and renal anomalies syndrome.",
"acronym": "SHDRA.",
"accession": "DI-05001",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by central nervous system, cardiac, renal, and digit abnormalities. Clinical features include ventricular and atrial septal defects, truncus arteriosus, tetralogy of Fallot, partial anomalous pulmonary venous return, renal cysts, renal failure, and generalized edema. Some patients show partial agenesis of corpus callosum. ",
"keywords": null
},
{
"identifier": "Structural brain anomalies with impaired intellectual development and craniosynostosis.",
"acronym": "BAIDCS.",
"accession": "DI-05736",
"synonyms": null,
"cross_references": "MeSH; D009421.",
"definition": "A disease characterized by microcephaly, agenesis of corpus callosum, abnormal conformation of the ventricles and posterior fossa, hypoplasia of both cerebellar hemispheres, colpocephaly, and partial absence of the cerebellar vermis with fusion of the cerebellar hemispheres. Intellectual development is moderately to severely impaired. Bicoronal synostosis, scoliosis, and tethered cord may be present. ",
"keywords": "KW-0989:Craniosynostosis.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Stromme syndrome.",
"acronym": "STROMS.",
"accession": "DI-04686",
"synonyms": "Apple peel syndrome with microcephaly and ocular anomalies.; CILD31.; Ciliary dyskinesia, primary, 31.; Jejunal atresia with microcephaly and ocular anomalies.; ",
"cross_references": "MeSH; D008831.",
"definition": "An autosomal recessive congenital disorder characterized by intestinal atresia, ocular anomalies, microcephaly, and renal and cardiac abnormalities in some patients. The disease has features of a ciliopathy, and lethality in early childhood is observed in severe cases. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "Striatonigral degeneration, childhood-onset.",
"acronym": "SNDC.",
"accession": "DI-04778",
"synonyms": "Lenk-Ploski syndrome.; ",
"cross_references": "MeSH; D020955.",
"definition": "An autosomal recessive neurological disorder characterized by sudden childhood onset of developmental regression. Affected children develop impaired movements with dystonia, progressively become non-ambulatory and non-verbal, and exhibit striatal abnormalities on MRI. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Striatal degeneration, autosomal dominant 2.",
"acronym": "ADSD2.",
"accession": "DI-04708",
"synonyms": null,
"cross_references": "MeSH; D006948.",
"definition": "An autosomal dominant disorder characterized by striatal degeneration and dysfunction of basal ganglia, resulting in hyperkinesis. ",
"keywords": null
},
{
"identifier": "Striatal degeneration, autosomal dominant 1.",
"acronym": "ADSD1.",
"accession": "DI-02813",
"synonyms": null,
"cross_references": "MeSH; D001480.",
"definition": "A movement disorder affecting the striatal part of the basal ganglia and characterized by bradykinesia, dysarthria and muscle rigidity. These symptoms resemble idiopathic Parkinson disease, but tremor is not present. ",
"keywords": null
},
{
"identifier": "Stormorken syndrome.",
"acronym": "STRMK.",
"accession": "DI-04155",
"synonyms": "Thrombocytopathy, asplenia, and miosis.; York platelet syndrome.; YPS.; ",
"cross_references": "MeSH; D020914.",
"definition": "A rare autosomal dominant disease characterized by mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. ",
"keywords": null
},
{
"identifier": "Stomatin-deficient cryohydrocytosis with neurologic defects.",
"acronym": "SDCHCN.",
"accession": "DI-04611",
"synonyms": "GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis.; ",
"cross_references": "MeSH; D000745.",
"definition": "A rare form of stomatocytosis characterized by episodic hemolytic anemia, cold-induced red cells cation leak, erratic hyperkalemia, neonatal hyperbilirubinemia, hepatosplenomegaly, cataracts, seizures, intellectual disability, and movement disorder. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; KW-0887:Epilepsy.; KW-0898:Cataract.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Stolerman neurodevelopmental syndrome.",
"acronym": "NEDSST.",
"accession": "DI-05608",
"synonyms": "NEDCFSA.; Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, variable intellectual disability, poor language acquisition, and dysmorphic facial features including a prominent nasal bridge and coarse features. Some patients manifest autism spectrum disorder. Musculoskeletal features may be present and include widened and thickened hands and fingers, joint hypermobility, clinodactyly of the fifth fingers, and toe syndactyly. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "STING-associated vasculopathy, infantile-onset.",
"acronym": "SAVI.",
"accession": "DI-04179",
"synonyms": "Autoinflammatory-vasculopathy syndrome.; ",
"cross_references": "MeSH; D056660.",
"definition": "An autoinflammatory disease characterized by early-onset systemic inflammation and cutaneous vasculopathy, resulting in severe skin lesions. Violaceous, scaling lesions of fingers, toes, nose, cheeks and ears progress to acral necrosis in most of the patients. Some patients have severe interstitial lung disease. ",
"keywords": null
},
{
"identifier": "Stiff skin syndrome.",
"acronym": "SSKS.",
"accession": "DI-02823",
"synonyms": null,
"cross_references": "MeSH; D012873.",
"definition": "A syndrome characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness. ",
"keywords": null
},
{
"identifier": "Stickler syndrome 6.",
"acronym": "STL6.",
"accession": "DI-06492",
"synonyms": "Stickler syndrome, type VI.; ",
"cross_references": "MeSH; D034381.",
"definition": "A form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondyly and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. STL6 is an autosomal recessive form characterized by early-onset progressive hearing loss and progressive myopia, with variable manifestation of facial dysmorphism and skeletal anomalies. ",
"keywords": "KW-0209:Deafness.; KW-0757:Stickler syndrome.; "
},
{
"identifier": "Stickler syndrome 5.",
"acronym": "STL5.",
"accession": "DI-03280",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. STL5 is characterized by high myopia, vitreoretinal degeneration, retinal detachment, mild to moderate sensorineural hearing loss, short stature in childhood, and absence of cleft palate and Pierre Robin sequence. ",
"keywords": "KW-0209:Deafness.; KW-0757:Stickler syndrome.; "
},
{
"identifier": "Stickler syndrome 4.",
"acronym": "STL4.",
"accession": "DI-01089",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. ",
"keywords": "KW-0209:Deafness.; KW-0757:Stickler syndrome.; "
},
{
"identifier": "Stickler syndrome 2.",
"acronym": "STL2.",
"accession": "DI-01092",
"synonyms": "Stickler syndrome beaded vitreous type.; Stickler syndrome type II.; Stickler syndrome vitreous type 2.; ",
"cross_references": "MeSH; D034381.",
"definition": "An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. ",
"keywords": "KW-0209:Deafness.; KW-0757:Stickler syndrome.; "
}
]
}