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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5820",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5780",
"results": [
{
"identifier": "Schizophrenia 2.",
"acronym": "SCZD2.",
"accession": "DI-02511",
"synonyms": "Schizophrenia susceptibility locus chromosome 11q-related.; ",
"cross_references": "MeSH; D012559.",
"definition": "A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. ",
"keywords": "KW-1211:Schizophrenia.; "
},
{
"identifier": "Schizophrenia 4.",
"acronym": "SCZD4.",
"accession": "DI-02512",
"synonyms": "Schizophrenia susceptibility locus chromosome 22-related.; ",
"cross_references": "MeSH; D012559.",
"definition": "A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. ",
"keywords": "KW-1211:Schizophrenia.; "
},
{
"identifier": "Schizophrenia 9.",
"acronym": "SCZD9.",
"accession": "DI-02510",
"synonyms": "Schizophrenia susceptibility locus chromosome 1q-related.; ",
"cross_references": "MeSH; D012559.",
"definition": "A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. ",
"keywords": "KW-1211:Schizophrenia.; "
},
{
"identifier": "Schmid type metaphyseal chondrodysplasia.",
"acronym": "SMCD.",
"accession": "DI-02285",
"synonyms": null,
"cross_references": "MedGen; C0265289.",
"definition": "Dominantly inherited disorder of the osseous skeleton. The cardinal features of the phenotype are mild short stature, coxa vara and a waddling gait. Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees. A variant form of SMCD is spondylometaphyseal dysplasia Japanese type. It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end- plate irregularity. ",
"keywords": null
},
{
"identifier": "Schneckenbecken dysplasia.",
"acronym": "SHNKND.",
"accession": "DI-02286",
"synonyms": "Chondrodysplasia, lethal neonatal, with snail-like pelvis.; ",
"cross_references": "MeSH; D010009.",
"definition": "A rare, lethal autosomal recessive skeletal dysplasia characterized by snail-like configuration of the hypoplastic iliac bone, short-limbed dwarfism, short ribs, and flattened, hypoplastic vertebral bodies. SHNKND is lethal in the neonatal period. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Schopf-Schulz-Passarge syndrome.",
"acronym": "SSPS.",
"accession": "DI-02494",
"synonyms": "Eccrine tumors with ectodermal dysplasia.; Keratosis palmoplantaris with cystic eyelids, hypodontia and hypotrichosis.; ",
"cross_references": "MeSH; D004476.",
"definition": "A rare ectodermal dysplasia, characterized chiefly by cysts of the eyelid margins, palmoplantar keratoderma, hypodontia, hypotrichosis and nail dystrophy. Multiple eyelid apocrine hidrocystomas are the hallmark of this condition, although they usually appear in adulthood. The concomitant presence of eccrine syringofibroadenoma in most patients and of other adnexal skin tumors in some affected subjects indicates that Schopf-Schulz-Passarge syndrome is a genodermatosis with skin appendage neoplasms. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-1007:Palmoplantar keratoderma.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Schuurs-Hoeijmakers syndrome.",
"acronym": "SHMS.",
"accession": "DI-03667",
"synonyms": "Intellectual developmental disorder, autosomal dominant 17.; MRD17.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant intellectual developmental disorder characterized by intellectual disability in combination with distinct craniofacial features and genital abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Schwannomatosis 1.",
"acronym": "SWN1.",
"accession": "DI-02287",
"synonyms": "Congenital cutaneous neurilemmomatosis.; SWNTS1.; ",
"cross_references": "MeSH; D009442.",
"definition": "An autosomal dominant tumor predisposition syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas on cranial, spinal, and peripheral nerves, without involvement of the vestibular nerve. Affected individuals may also have multiple meningiomas. ",
"keywords": null
},
{
"identifier": "Schwannomatosis 2.",
"acronym": "SWN2.",
"accession": "DI-04051",
"synonyms": "SWNTS2.; ",
"cross_references": "MeSH; D009442.",
"definition": "A form of schwannomatosis, a tumor predisposition syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas on cranial, spinal, and peripheral nerves, without involvement of the vestibular nerve. SWN2 affected individuals have multiple schwannomas in various areas of the body. SWN2 transmission pattern is consistent with autosomal dominant inheritance and incomplete penetrance. ",
"keywords": null
},
{
"identifier": "Schwannomatosis, vestibular.",
"acronym": "SWNV.",
"accession": "DI-02045",
"synonyms": "Acoustic neurinoma, bilateral.; Acoustic schwannomas, bilateral.; ANC.; BANF.; Bilateral acoustic neurofibromatosis.; Central neurofibromatosis.; Neurofibromatosis 2.; NF2.; Schwannomatosis 3.; SWN3.; ",
"cross_references": "MeSH; D016518.",
"definition": "An autosomal dominant neoplasia syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas, particularly affecting the vestibular nerve. Affected individuals usually present with bilateral vestibular schwannomas but can have schwannomas on other cranial, spinal, and peripheral/cutaneous nerves. Meningiomas are common, whereas 20 to 35% of affected individuals develop intramedullary spinal cord tumors called ependymomas. The condition is also characterized by several ophthalmic features such as lenticular opacities, retinal hamartoma, epiretinal membranes. ",
"keywords": null
},
{
"identifier": "Schwartz-Jampel syndrome.",
"acronym": "SJS1.",
"accession": "DI-02288",
"synonyms": null,
"cross_references": "MedGen; C0036391.",
"definition": "Rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses. ",
"keywords": null
},
{
"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": "Sclerosteosis 1.",
"acronym": "SOST1.",
"accession": "DI-01007",
"synonyms": "Cortical hyperostosis with syndactyly.; Sclerosteosis.; SOST.; ",
"cross_references": "MeSH; D015576.",
"definition": "An autosomal recessive 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": "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": "Scott syndrome.",
"acronym": "SCTS.",
"accession": "DI-03017",
"synonyms": "BDPLT7.; Bleeding abnormality due to deficiency of platelet binding of factor X.; Bleeding disorder platelet-type 7.; Prothrombin consumption deficiency.; Prothrombin consumption inhibitor familial.; Prothrombin conversion defect familial.; ",
"cross_references": "MeSH; D006470.",
"definition": "A mild bleeding disorder due to impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents. ",
"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": "Sea-blue histiocyte disease.",
"acronym": "SBHD.",
"accession": "DI-02290",
"synonyms": "Sea-blue histiocytosis.; ",
"cross_references": "MedGen; C0036489.",
"definition": "Characterized by splenomegaly, mild thrombocytopenia and, in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain bright blue with the usual hematologic stains. The syndrome is the consequence of an inherited metabolic defect analogous to Gaucher disease and other sphingolipidoses. ",
"keywords": null
},
{
"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": "Seckel syndrome 1.",
"acronym": "SCKL1.",
"accession": "DI-01008",
"synonyms": "Bird-headed dwarfism.; Microcephalic primordial dwarfism I.; Nanocephalic dwarfism.; Seckel-type dwarfism.; ",
"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 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.; "
}
]
}