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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5840",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5800",
"results": [
{
"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": "Seckel syndrome 2.",
"acronym": "SCKL2.",
"accession": "DI-03353",
"synonyms": "Bird-headed dwarfism 2.; Microcephalic primordial dwarfism 2.; Seckel-type dwarfism 2.; ",
"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 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": "Segawa syndrome autosomal recessive.",
"acronym": "ARSEGS.",
"accession": "DI-00410",
"synonyms": "Autosomal recessive DOPA-responsive dystonia.; Autosomal recessive infantile parkinsonism.; Dystonia, DOPA-responsive, autosomal recessive.; THD.; Tyrosine hydroxylase deficiency.; ",
"cross_references": "MeSH; D020734.",
"definition": "A form of DOPA-responsive dystonia presenting in infancy or early childhood. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Some cases present with parkinsonian symptoms in infancy. Unlike all other forms of dystonia, it is an eminently treatable condition, due to a favorable response to L-DOPA. ",
"keywords": "KW-0908:Parkinsonism.; KW-1023:Dystonia.; "
},
{
"identifier": "Seizures, benign familial infantile, 2.",
"acronym": "BFIS2.",
"accession": "DI-03373",
"synonyms": "Benign familial infantile convulsions 2.; BFIC2.; ",
"cross_references": "MeSH; D020936.",
"definition": "A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS2 inheritance is autosomal dominant. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Seizures, benign familial infantile, 3.",
"acronym": "BFIS3.",
"accession": "DI-00181",
"synonyms": "Benign familial infantile convulsions 3.; Benign familial neonatal-infantile epilepsy.; Benign familial neonatal-infantile seizures.; BFIC3.; BFNIS.; ",
"cross_references": "MeSH; D020936.",
"definition": "A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS3 inheritance is autosomal dominant. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Seizures, benign familial infantile, 5.",
"acronym": "BFIS5.",
"accession": "DI-04807",
"synonyms": "Benign familial infantile convulsions 5.; ",
"cross_references": "MeSH; D020936.",
"definition": "A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS5 inheritance is autosomal dominant. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Seizures, benign familial infantile, 6.",
"acronym": "BFIS6.",
"accession": "DI-05284",
"synonyms": "BFIC6.; Convulsions, benign familial infantile, 6.; ",
"cross_references": "MeSH; D020936.",
"definition": "A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS6 inheritance is autosomal dominant. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Seizures, benign familial neonatal 1.",
"acronym": "BFNS1.",
"accession": "DI-00182",
"synonyms": "Benign familial neonatal convulsions 1.; Benign neonatal epilepsy 1.; Benign neonatal epilepsy 1 and/or myokymia.; Benign neonatal epilepsy 1 with myokymia.; Benign neonatal epilepsy atypical severe.; BFNC/myokymia syndrome.; BFNC1.; Convulsions benign familial neonatal 1 with myokymia.; EBN1.; Myokymia isolated.; Myokymia with neonatal epilepsy.; ",
"cross_references": "MeSH; D020936.",
"definition": "A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. Some rare cases manifest an atypical severe phenotype associated with epileptic encephalopathy and psychomotor retardation. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. In some patients, neonatal convulsions are followed later in life by myokymia, a benign condition characterized by spontaneous involuntary contractions of skeletal muscles fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Some patients may have isolated myokymia. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Seizures, benign familial neonatal 2.",
"acronym": "BFNS2.",
"accession": "DI-00183",
"synonyms": "Benign familial neonatal convulsions type 2.; Benign neonatal epilepsy 2.; BFNC2.; EBN2.; ",
"cross_references": "MeSH; D020936.",
"definition": "A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Seizures, cortical blindness, and microcephaly syndrome.",
"acronym": "SCBMS.",
"accession": "DI-04572",
"synonyms": null,
"cross_references": "MeSH; D019575.",
"definition": "A severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, short stature, and cortical blindness. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Seizures, early-onset, with neurodegeneration and brain calcification.",
"acronym": "SENEBAC.",
"accession": "DI-05833",
"synonyms": null,
"cross_references": "MeSH; D019636.",
"definition": "An autosomal recessive neurodegenerative disorder clinically characterized by refractory seizures apparent in the first year of life, mild early developmental delay, and developmental regression after seizure onset. Other features include hypotonia, hyperreflexia, peripheral spasticity, poor eye contact, absent speech, poor head control, and inability to walk. Brain imaging shows reduced white matter volume with delayed myelination, and punctate calcifications. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Seizures, scoliosis, and macrocephaly/microcephaly syndrome.",
"acronym": "SSMS.",
"accession": "DI-04595",
"synonyms": "Seizures-scoliosis-macrocephaly syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by seizures, intellectual disability, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance.",
"acronym": "SESAMES.",
"accession": "DI-02543",
"synonyms": "EAST syndrome.; Epilepsy ataxia sensorineural deafness and tubulopathy.; SESAME syndrome.; ",
"cross_references": "MeSH; D012640.",
"definition": "A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
}
]
}