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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5840&ordering=synonyms",
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"results": [
{
"identifier": "Sclerosing cholangitis, neonatal.",
"acronym": "NSC.",
"accession": "DI-04970",
"synonyms": null,
"cross_references": "MeSH; D015209.",
"definition": "An autosomal recessive form of liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis. Cholangiography shows patent biliary ducts, but there are bile duct irregularities. ",
"keywords": null
},
{
"identifier": "Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.",
"acronym": "SHRF.",
"accession": "DI-05141",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by childhood myopia, early onset retinitis pigmentosa, progressive sensorineural hearing loss, hypothyroidism, short stature, brachydactyly, recognisable facial gestalt, premature ageing and mild intellectual disability. ",
"keywords": "KW-0209:Deafness.; KW-0242:Dwarfism.; KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Sclerosteosis 2.",
"acronym": "SOST2.",
"accession": "DI-03282",
"synonyms": null,
"cross_references": "MeSH; D015576.",
"definition": "A sclerosing bone dysplasia characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients. ",
"keywords": null
},
{
"identifier": "Schinzel-Giedion midface retraction syndrome.",
"acronym": "SGMFS.",
"accession": "DI-02836",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by severe intellectual disability, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia. ",
"keywords": null
},
{
"identifier": "Sd(a) polyagglutination syndrome.",
"acronym": "SDPS.",
"accession": "DI-06283",
"synonyms": null,
"cross_references": "MedGen; CN305190.",
"definition": "A condition characterized by red blood cells agglutination upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory. SDPS depends on the strength of expression of the Sd(a) antigen on red blood cells. Most people have weak anti-Sd(a) antibodies in their serum, which is usually of no clinical importance, but can result in red cell agglutination if they are transfused with cells showing strong Sd(a) expression. ",
"keywords": null
},
{
"identifier": "Schindler disease.",
"acronym": "SCHIND.",
"accession": "DI-02283",
"synonyms": null,
"cross_references": "MedGen; C1836547.",
"definition": "Form of NAGA deficiency characterized by early-onset neuroaxonal dystrophy and neurological signs (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). NAGA deficiency is typically classified in three main phenotypes: NAGA deficiency type I (Schindler disease or Schindler disease type I) with severe manifestations; NAGA deficiency type II (Kanzazi disease or Schindler disease type II) which is mild; NAGA deficiency type III (Schindler disease type III) characterized by mild-to-moderate neurologic manifestations. NAGA deficiency results in the increased urinary excretion of glycopeptides and oligosaccharides containing alpha-N-acetylgalactosaminyl moieties. Inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Short stature, idiopathic, X-linked.",
"acronym": "ISS.",
"accession": "DI-01807",
"synonyms": null,
"cross_references": "MeSH; D004392.",
"definition": "A condition defined by a standing height more than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared with a well-nourished, genetically relevant population, in the absence of specific causative disorders. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Seborrhea-like dermatitis with psoriasiform elements.",
"acronym": "SLDP.",
"accession": "DI-02292",
"synonyms": null,
"cross_references": "MedGen; C1853258.",
"definition": "Characterized by a chronic fine diffuse scaly erythematous rash on the face, particularly on the chin, nasolabial folds and eyebrows, around earlobes and over the scalp. The rash exacerbate in the winter, with emotional stress and after strenuous physical activity. Hyperkeratosis of skin over the elbows, knees, palms, soles and metacarpophalangeal joints is evident. There is no arthralgia, arthritis or neurological disorders. ",
"keywords": null
},
{
"identifier": "Sandestig-Stefanova syndrome.",
"acronym": "SANDSTEF.",
"accession": "DI-05785",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by pre- and postnatal microcephaly, trigonocephaly, congenital bilateral cataract, microphthalmia, cleft lip and palate or high-arched palate, camptodactyly, rocker-bottom feet, heart anomalies, specific brain changes such as loss of periventricular white matter, thin corpus callosum, and delayed myelinization. ",
"keywords": "KW-0898:Cataract.; KW-1013:Microphthalmia.; "
},
{
"identifier": "Seckel syndrome 10.",
"acronym": "SCKL10.",
"accession": "DI-04892",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of Seckel syndrome, a rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Seckel syndrome 11.",
"acronym": "SCKL11.",
"accession": "DI-06869",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of Seckel syndrome, a rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Ruijs-Aalfs syndrome.",
"acronym": "RJALS.",
"accession": "DI-04313",
"synonyms": null,
"cross_references": "MeSH; D049914.",
"definition": "A syndrome characterized by genomic instability, progeroid features, and susceptibility toward early onset hepatocellular carcinoma. ",
"keywords": null
},
{
"identifier": "Seckel syndrome 4.",
"acronym": "SCKL4.",
"accession": "DI-02948",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Seckel syndrome 5.",
"acronym": "SCKL5.",
"accession": "DI-03060",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Seckel syndrome 6.",
"acronym": "SCKL6.",
"accession": "DI-03484",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Seckel syndrome 7.",
"acronym": "SCKL7.",
"accession": "DI-03545",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Seckel syndrome 8.",
"acronym": "SCKL8.",
"accession": "DI-04089",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Seckel syndrome 9.",
"acronym": "SCKL9.",
"accession": "DI-04640",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of Seckel syndrome, a rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Sedoheptulokinase deficiency.",
"acronym": "SHPKD.",
"accession": "DI-04872",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive metabolic disease characterized by increased urinary erythritol and sedoheptulose. Neonatal cholestasis, hypoglycemia, anemia, congenital arthrogryposis multiplex, multiple contractures and dysmorphisms have been reported in SHPKD patients, but the relationship of these features to the SHPKD is unclear. ",
"keywords": null
},
{
"identifier": "Rubinstein-Taybi syndrome 2.",
"acronym": "RSTS2.",
"accession": "DI-02976",
"synonyms": null,
"cross_references": "MeSH; D012415.",
"definition": "A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, intellectual disability and a propensity for development of malignancies. Some individuals with RSTS2 have less severe mental impairment, more severe microcephaly, and a greater degree of changes in facial bone structure than RSTS1 patients. ",
"keywords": null
}
]
}