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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1880",
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"results": [
{
"identifier": "Developmental and epileptic encephalopathy 74.",
"acronym": "DEE74.",
"accession": "DI-05528",
"synonyms": "EIEE74.; Epileptic encephalopathy, early infantile, 74.; ",
"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. DEE74 is an autosomal dominant form with onset in the first year of life. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 75.",
"acronym": "DEE75.",
"accession": "DI-05571",
"synonyms": "EIEE75.; Epileptic encephalopathy, early infantile, 75.; ",
"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. DEE75 is an autosomal recessive form characterized by onset of severe refractory seizures in the first months of life. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 76.",
"acronym": "DEE76.",
"accession": "DI-05592",
"synonyms": "EIEE76.; Epileptic encephalopathy, early infantile, 76.; ",
"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. DEE76 is an autosomal recessive form that may result in death in childhood. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 78.",
"acronym": "DEE78.",
"accession": "DI-05652",
"synonyms": "EIEE78.; Epileptic encephalopathy, early infantile, 78.; ",
"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. DEE78 is an autosomal dominant form characterized by onset of refractory seizures in the first days or months of life. Clinical features include severe developmental delay, hypotonia, microcephaly, cortical visual impairment and profound intellectual disability. Some patients manifest a less severe phenotype characterized by pharmacoresponsive epilepsy, autism spectrum disorder and moderate intellectual disability. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 79.",
"acronym": "DEE79.",
"accession": "DI-05653",
"synonyms": "EIEE79.; Epileptic encephalopathy, early infantile, 79.; ",
"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. DEE79 is an autosomal dominant form characterized by onset of refractory seizures in the first months of life. Brain imaging may show hypomyelination, cerebral atrophy and thinning of the corpus callosum. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 8.",
"acronym": "DEE8.",
"accession": "DI-01088",
"synonyms": "EIEE8.; Epileptic encephalopathy, early infantile, 8.; Hyperekplexia with epilepsy.; Startle disease with epilepsy.; ",
"cross_references": "MeSH; D013216.",
"definition": "A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and intellectual disability. Seizures can be provoked by tactile stimulation or extreme emotion. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 80.",
"acronym": "DEE80.",
"accession": "DI-05661",
"synonyms": "EIEE80.; Epileptic encephalopathy, early infantile, 80.; Glycosylphosphatidylinositol biosynthesis defect 20.; GPIBD20.; ",
"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. DEE80 is an autosomal recessive form characterized by onset of refractory seizures in the first year of life, severe global developmental delay and/or intellectual disability. Additional variable features include polyneuropathy, hearing loss, visual impairment, dysmorphic or coarse facial features, and distal skeletal abnormalities. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 81.",
"acronym": "DEE81.",
"accession": "DI-05696",
"synonyms": "EIEE81.; Epileptic encephalopathy, early infantile, 81.; ",
"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. DEE81 is an autosomal recessive form characterized by onset soon after birth, little developmental progress with no eye contact and no motor or cognitive development. Other features may include facial dysmorphism, such as hypotonic facies and epicanthal folds, as well as sensorineural hearing loss and peripheral neuropathy. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 82.",
"acronym": "DEE82.",
"accession": "DI-05722",
"synonyms": "Deficiency of mitochondrial glutamate oxaloacetate transaminase.; EIEE82.; Epileptic encephalopathy, early infantile, 82.; GOT2 deficiency.; ",
"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. DEE82 is an autosomal recessive metabolic encephalopathy characterized by epilepsy from the first year of life, global developmental delay, hypotonia and feeding difficulties apparent soon after birth, and intellectual and motor disabilities. Other features include poor overall growth, progressive microcephaly and biochemical abnormalities, including increased serum lactate and ammonia. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 83.",
"acronym": "DEE83.",
"accession": "DI-05738",
"synonyms": "Barakat-Perenthaler syndrome.; EIEE83.; Epileptic encephalopathy, early infantile, 83.; ",
"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. DEE83 is an autosomal recessive form characterized by onset of frequent, intractable seizures in the first days to months of life. Affected individuals have profound developmental delay with no motor or language skill acquisition, and poor or absent visual tracking. Many patients die in the first years of life. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 84.",
"acronym": "DEE84.",
"accession": "DI-05769",
"synonyms": "EIEE84.; Epileptic encephalopathy, early infantile, 84.; Jamuar syndrome.; ",
"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. DEE84 is an autosomal recessive form characterized by onset of refractory seizures in the first months of life. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 85 with or without midline brain defects.",
"acronym": "DEE85.",
"accession": "DI-05802",
"synonyms": "EIEE85.; Epileptic encephalopathy, early infantile, 85, with or without midline brain defects.; ",
"cross_references": "MeSH; D013036.",
"definition": "An X-linked 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. DEE85 is characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features. Many patients have midline brain defects on brain imaging. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 86.",
"acronym": "DEE86.",
"accession": "DI-05854",
"synonyms": "EIEE86.; Epileptic encephalopathy, early infantile, 86.; ",
"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. DEE86 inheritance is autosomal recessive. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 87.",
"acronym": "DEE87.",
"accession": "DI-05860",
"synonyms": "EIEE87.; Epileptic encephalopathy, early infantile, 87.; ",
"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. DEE87 inheritance is autosomal dominant. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 88.",
"acronym": "DEE88.",
"accession": "DI-05883",
"synonyms": "EIEE88.; Epileptic encephalopathy, early infantile, 88.; ",
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of 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. DEE88 is an autosomal recessive severe form characterized by global developmental delay, epilepsy, and progressive microcephaly. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 89.",
"acronym": "DEE89.",
"accession": "DI-05990",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of 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. DEE89 is an autosomal recessive severe form characterized by profound global developmental delay with impaired intellectual development, absent speech, inability to sit or walk due to axial hypotonia and spastic quadriparesis, and onset of seizures in the first days or months of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 9.",
"acronym": "DEE9.",
"accession": "DI-01533",
"synonyms": "EFMR.; EIEE9.; Epileptic encephalopathy, early infantile, 9.; ",
"cross_references": "MeSH; D013036.",
"definition": "A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 90.",
"acronym": "DEE90.",
"accession": "DI-06025",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of 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. DEE90 is an X-linked form characterized by onset of refractory seizures in the first days or months of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 94.",
"acronym": "DEE94.",
"accession": "DI-03857",
"synonyms": "EEOC.; Epileptic encephalopathy, childhood-onset.; ",
"cross_references": "MeSH; D004827.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of 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. DEE94 is an autosomal dominant, severe form characterized by onset of multiple seizure types in the first few years of life. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 96.",
"acronym": "DEE96.",
"accession": "DI-06117",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of 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. DEE96 is an autosomal dominant form characterized by onset of seizures in the first days or weeks of life. Affected infants also have hypotonia with respiratory insufficiency that may result in premature death. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
}
]
}