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{
"count": 6723,
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"results": [
{
"identifier": "Developmental and epileptic encephalopathy 38.",
"acronym": "DEE38.",
"accession": "DI-04755",
"synonyms": "EIEE38.; Epileptic encephalopathy, early infantile, 38.; ",
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE38 inheritance is autosomal recessive. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 39 with leukodystrophy.",
"acronym": "DEE39.",
"accession": "DI-02562",
"synonyms": "AGC1 deficiency.; Aspartate-glutamate carrier 1 deficiency.; EIEE39.; Epileptic encephalopathy, early infantile, 39.; Global cerebral hypomyelination.; Hypomyelination, global cerebral.; ",
"cross_references": "MeSH; D020279.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE39 is characterized by global hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Developmental and epileptic encephalopathy 4.",
"acronym": "DEE4.",
"accession": "DI-00474",
"synonyms": "Early myoclonic encephalopathy.; EIEE4.; EME.; Epileptic encephalopathy, early infantile, 4.; Neonatal epilepsy with suppression-burst pattern.; ",
"cross_references": "MeSH; D013036.",
"definition": "A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Affected individuals have neonatal or infantile onset of seizures, profound intellectual disability, and MRI evidence of brain hypomyelination. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 40.",
"acronym": "DEE40.",
"accession": "DI-04793",
"synonyms": "EIEE40.; Epileptic encephalopathy, early infantile, 40.; ",
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE40 inheritance is autosomal recessive. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 41.",
"acronym": "DEE41.",
"accession": "DI-04837",
"synonyms": "EIEE41.; Epileptic encephalopathy, early infantile, 41.; ",
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE41 inheritance is autosomal dominant. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 42.",
"acronym": "DEE42.",
"accession": "DI-04836",
"synonyms": "EIEE42.; Epileptic encephalopathy, early infantile, 42.; ",
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE42 inheritance is autosomal dominant. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 43.",
"acronym": "DEE43.",
"accession": "DI-04835",
"synonyms": "EIEE43.; Epileptic encephalopathy, early infantile, 43.; ",
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE43 inheritance is autosomal dominant. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 44.",
"acronym": "DEE44.",
"accession": "DI-04843",
"synonyms": "EIEE44.; Epileptic encephalopathy, early infantile, 44.; ",
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE44 transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 45.",
"acronym": "DEE45.",
"accession": "DI-04844",
"synonyms": "EIEE45.; Epileptic encephalopathy, early infantile, 45.; ",
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 46.",
"acronym": "DEE46.",
"accession": "DI-04845",
"synonyms": "EIEE46.; Epileptic encephalopathy, early infantile, 46.; ",
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 47.",
"acronym": "DEE47.",
"accession": "DI-04846",
"synonyms": "EIEE47.; Epileptic encephalopathy, early infantile, 47.; ",
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 48.",
"acronym": "DEE48.",
"accession": "DI-04937",
"synonyms": "EIEE48.; Epileptic encephalopathy, early infantile, 48.; ",
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE48 is an autosomal recessive form characterized by onset of seizures in the first year of life. Affected individuals manifest global developmental delay, intellectual disability, absent speech, and poor, if any, motor development. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 49.",
"acronym": "DEE49.",
"accession": "DI-04919",
"synonyms": "EIEE49.; Epileptic encephalopathy, early infantile, 49.; ",
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE49 is a severe autosomal recessive form characterized by onset of seizures in the neonatal period, global developmental delay, intellectual disability, and additionally cerebral calcifications and coarse facial features. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 5.",
"acronym": "DEE5.",
"accession": "DI-02791",
"synonyms": "EIEE5.; Epileptic encephalopathy, early infantile, 5.; ",
"cross_references": "MeSH; D013036.",
"definition": "A disorder characterized by seizures associated with hypsarrhythmia, profound intellectual disability with lack of visual attention and speech development, as well as spastic quadriplegia. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 50.",
"acronym": "DEE50.",
"accession": "DI-04479",
"synonyms": "CDG1Z.; Congenital disorder of glycosylation 1Z.; EIEE50.; Epileptic encephalopathy, early infantile, 50.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE50 is an autosomal recessive, progressive disease with onset in infancy and favorable response to treatment with oral uridine. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 51.",
"acronym": "DEE51.",
"accession": "DI-04943",
"synonyms": "EIEE51.; Epileptic encephalopathy, early infantile, 51.; ",
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE51 is an autosomal recessive form characterized by onset of intractable seizures and hypotonia in the first days or weeks of life, and severely delayed psychomotor development. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 52.",
"acronym": "DEE52.",
"accession": "DI-04944",
"synonyms": "EIEE52.; Epileptic encephalopathy, early infantile, 52.; ",
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE52 inheritance is autosomal recessive. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 53.",
"acronym": "DEE53.",
"accession": "DI-04961",
"synonyms": "EIEE53.; Epileptic encephalopathy, early infantile, 53.; ",
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE53 inheritance is autosomal recessive. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 54.",
"acronym": "DEE54.",
"accession": "DI-04962",
"synonyms": "EIEE54.; Epileptic encephalopathy, early infantile, 54.; ",
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 55.",
"acronym": "DEE55.",
"accession": "DI-05060",
"synonyms": "EIEE55.; Epileptic encephalopathy, early infantile, 55.; Glycosylphosphatidylinositol biosynthesis defect 14.; GPIBD14.; ",
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE55 is an autosomal recessive condition. ",
"keywords": "KW-0887:Epilepsy.; "
}
]
}