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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=440&ordering=-identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=400&ordering=-identifier",
"results": [
{
"identifier": "Stickler syndrome 1 non-syndromic ocular.",
"acronym": "STL1O.",
"accession": "DI-01091",
"synonyms": "Stickler syndrome atypical.; Stickler syndrome predominantly ocular.; Wagner syndrome 2.; ",
"cross_references": "MeSH; D012163.",
"definition": "An autosomal dominant form of Stickler syndrome characterized by the ocular signs typically seen in Stickler syndrome type 1 such as cataract, myopia, retinal detachment. Systemic features of premature osteoarthritis, cleft palate, hearing impairment, and craniofacial abnormalities are either absent or very mild. ",
"keywords": "KW-0757:Stickler syndrome.; "
},
{
"identifier": "Stickler syndrome 1.",
"acronym": "STL1.",
"accession": "DI-01090",
"synonyms": "AOM.; Arthro-ophthalmopathy hereditary progressive.; Stickler syndrome membranous vitreous type.; Stickler syndrome type I.; Stickler syndrome vitreous type 1.; ",
"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.; "
},
{
"identifier": "Stevens-Johnson syndrome.",
"acronym": "SJS.",
"accession": "DI-02879",
"synonyms": "Dermatostomatitis Stevens Johnson type.; TEN.; Toxic epidermal necrolysis.; ",
"cross_references": "MeSH; D013262.",
"definition": "A rare blistering mucocutaneous disease that share clinical and histopathologic features with toxic epidermal necrolysis. Both disorders are characterized by high fever, malaise, and a rapidly developing blistering exanthema of macules and target-like lesions accompanied by mucosal involvement. Stevens-Johnson syndrome is a milder disease characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis and sometimes blindness. It can be caused by a severe adverse reaction to particular types of medication, although Mycoplasma infections may induce some cases. ",
"keywords": null
},
{
"identifier": "Steel syndrome.",
"acronym": "STLS.",
"accession": "DI-04187",
"synonyms": "Dislocated hips and radial heads, carpal coalition, scoliosis, and short stature.; ",
"cross_references": "MeSH; D012600.",
"definition": "A syndrome characterized by dislocated hips and radial heads, fusion of carpal bones, short stature, scoliosis, and cervical spine anomalies. Facial features include prominent forehead, long oval- shaped face, hypertelorism and broad nasal bridge. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Steatocystoma multiplex.",
"acronym": "SM.",
"accession": "DI-02341",
"synonyms": null,
"cross_references": "MedGen; C0259771.",
"definition": "Disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs. ",
"keywords": null
},
{
"identifier": "Stargardt disease 4.",
"acronym": "STGD4.",
"accession": "DI-01086",
"synonyms": null,
"cross_references": "MeSH; D003317.",
"definition": "A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. ",
"keywords": "KW-0751:Stargardt disease.; "
},
{
"identifier": "Stargardt disease 3.",
"acronym": "STGD3.",
"accession": "DI-01085",
"synonyms": "Macular dystrophy autosomal dominant chromosome 6-linked.; Macular dystrophy with flecks type 3.; Stargardt-like macular dystrophy.; ",
"cross_references": "MeSH; D003317.",
"definition": "A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. ",
"keywords": "KW-0751:Stargardt disease.; "
},
{
"identifier": "Stargardt disease 1.",
"acronym": "STGD1.",
"accession": "DI-01084",
"synonyms": "Juvenile macular degeneration.; Macular dystrophy with flecks type 1.; Stargardt's disease.; ",
"cross_references": "MeSH; D003317.",
"definition": "A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. ",
"keywords": "KW-0751:Stargardt disease.; "
},
{
"identifier": "Stapes ankylosis with broad thumb and toes.",
"acronym": "SABTS.",
"accession": "DI-02339",
"synonyms": "Ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly.; Stapes ankylosis syndrome without symphalangism.; Teunissen-Cremers syndrome.; ",
"cross_references": "MeSH; D009140.",
"definition": "An autosomal dominant disorder characterized by hyperopia, a hemicylindrical nose, broad thumbs, great toes, and other minor skeletal anomalies but lacked carpal and tarsal fusion and symphalangism. ",
"keywords": null
},
{
"identifier": "Stankiewicz-Isidor syndrome.",
"acronym": "STISS.",
"accession": "DI-05014",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild dysmorphism, ophthalmologic anomalies, feeding difficulties, deafness, and variable congenital malformations of the cardiac and/or urogenital systems. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Squamous cell carcinoma of the head and neck.",
"acronym": "HNSCC.",
"accession": "DI-01696",
"synonyms": null,
"cross_references": "MeSH; D002294.",
"definition": "A non-melanoma skin cancer affecting the head and neck. The hallmark of cutaneous SCC is malignant transformation of normal epidermal keratinocytes. ",
"keywords": null
},
{
"identifier": "Squalene synthase deficiency.",
"acronym": "SQSD.",
"accession": "DI-05357",
"synonyms": "Neurodevelopmental disorder with low cholesterol and abnormal urine organic acids.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, facial dysmorphisms, low total and LDL-cholesterol, and abnormal urine organic acids. ",
"keywords": null
},
{
"identifier": "Spongiform encephalopathy with neuropsychiatric features.",
"acronym": "SENF.",
"accession": "DI-02210",
"synonyms": null,
"cross_references": "MedGen; C1847650.",
"definition": "Autosomal dominant presenile dementia with a rapidly progressive and protracted clinical course. The dementia was characterized clinically by frontotemporal features, including early personality changes. Some patients had memory loss, several showed aggressiveness, hyperorality and verbal stereotypy, others had parkinsonian symptoms. ",
"keywords": null
},
{
"identifier": "Spondyloperipheral dysplasia.",
"acronym": "SPD.",
"accession": "DI-02337",
"synonyms": null,
"cross_references": "MedGen; C0796173.",
"definition": "SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly. ",
"keywords": null
},
{
"identifier": "Spondyloocular syndrome.",
"acronym": "SOS.",
"accession": "DI-04546",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "A syndrome characterized by cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, osteoporosis, immobile spine with thoracic kyphosis and reduced lumbal lordosis. ",
"keywords": null
},
{
"identifier": "Spondylometaphyseal dysplasia with corneal dystrophy.",
"acronym": "SMDCD.",
"accession": "DI-05885",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive disorder characterized by postnatal growth deficiency, profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding, and intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondylometaphyseal dysplasia with cone-rod dystrophy.",
"acronym": "SMDCRD.",
"accession": "DI-04061",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "An autosomal recessive disorder characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. ",
"keywords": "KW-0182:Cone-rod dystrophy.; KW-0242:Dwarfism.; "
},
{
"identifier": "Spondylometaphyseal dysplasia, Sedaghatian type.",
"acronym": "SMDS.",
"accession": "DI-04167",
"synonyms": "Congenital lethal metaphyseal chondrodysplasia.; Sedaghatian chondrodysplasia.; ",
"cross_references": "MeSH; D010009.",
"definition": "A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDS is a neonatal lethal form characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondylometaphyseal dysplasia, Pagnamenta type.",
"acronym": "SMDP.",
"accession": "DI-06277",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDP is an autosomal recessive form characterized by short stature and mild platyspondyly with no disproportion between the limbs. Mild metaphyseal changes are present. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type.",
"acronym": "SMDMDM.",
"accession": "DI-04374",
"synonyms": "Chondrodysplasia, Megarbane-Dagher-Melike type.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive disease characterized by pre- and postnatal short stature, developmental delay, dysmorphic facial appearance, narrow chest, prominent abdomen, platyspondyly, and short limbs. ",
"keywords": "KW-0242:Dwarfism.; "
}
]
}