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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5020&ordering=-synonyms",
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"results": [
{
"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 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 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 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 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 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 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 37.",
"acronym": "DEE37.",
"accession": "DI-04748",
"synonyms": "EIEE37.; Epileptic encephalopathy, early infantile, 37.; ",
"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. DEE37 is an autosomal recessive, severe form manifesting in the first years of life. Affected individuals show hyperkinetic movement disorder with choreoathetosis, spasticity, rigidity, intellectual disability, absent speech, and impaired volitional movements. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 35.",
"acronym": "DEE35.",
"accession": "DI-04578",
"synonyms": "EIEE35.; Epileptic encephalopathy, early infantile, 35.; ",
"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. DEE35 is characterized by onset of seizures in the first months of life associated with essentially no normal development. Many patients die in early childhood. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 34.",
"acronym": "DEE34.",
"accession": "DI-04577",
"synonyms": "EIEE34.; Epileptic encephalopathy, early infantile, 34.; ",
"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. DEE34 is characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 33.",
"acronym": "DEE33.",
"accession": "DI-04447",
"synonyms": "EIEE33.; Epileptic encephalopathy, early infantile, 33.; ",
"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 32.",
"acronym": "DEE32.",
"accession": "DI-04415",
"synonyms": "EIEE32.; Epileptic encephalopathy, early infantile, 32.; ",
"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. DEE32 inheritance is autosomal dominant. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 30.",
"acronym": "DEE30.",
"accession": "DI-04413",
"synonyms": "EIEE30.; Epileptic encephalopathy, early infantile, 30.; ",
"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 29.",
"acronym": "DEE29.",
"accession": "DI-04412",
"synonyms": "EIEE29.; Epileptic encephalopathy, early infantile, 29.; ",
"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. DEE29 patients manifest severe infantile epileptic encephalopathy, clubfoot, absent deep tendon reflexes, extrapyramidal symptoms, and persistently deficient myelination. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 28.",
"acronym": "DEE28.",
"accession": "DI-04325",
"synonyms": "EIEE28.; Epileptic encephalopathy, early infantile, 28.; ",
"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 27.",
"acronym": "DEE27.",
"accession": "DI-04289",
"synonyms": "EIEE27.; Epileptic encephalopathy, early infantile, 27.; ",
"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 26.",
"acronym": "DEE26.",
"accession": "DI-04249",
"synonyms": "EIEE26.; Epileptic encephalopathy, early infantile, 26.; ",
"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. DEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta.",
"acronym": "DEE25.",
"accession": "DI-04176",
"synonyms": "EIEE25.; Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta.; ",
"cross_references": "MeSH; D013036.",
"definition": "An autosomal recessive disease characterized by subclinical seizures appearing in the first days of life, evolving to severe epileptic disease. Affected individuals have profound or severe delayed development with lack of speech, and most patients do not acquire the ability to sit. Additional variable features include axial hypotonia, peripheral hypertonia, and abnormal involuntary movements such as dystonia and choreoathetosis. Dental abnormalities, including delayed eruption, hypodontia, tooth hypoplasia, yellow discoloration, thin enamel, and enamel chipping are observed in most patients. ",
"keywords": "KW-0887:Epilepsy.; KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 24.",
"acronym": "DEE24.",
"accession": "DI-04145",
"synonyms": "EIEE24.; Epileptic encephalopathy, early infantile, 24.; ",
"cross_references": "MeSH; D013036.",
"definition": "A disease characterized by early-onset seizures, intellectual disability of varying degrees, and behavioral disturbances or autistic features in most individuals. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 23.",
"acronym": "DEE23.",
"accession": "DI-04135",
"synonyms": "EIEE23.; Epileptic encephalopathy, early infantile, 23.; ",
"cross_references": "MeSH; D013036.",
"definition": "A severe disease characterized by early-onset intractable epilepsy, dysmorphic features, intellectual disability, and cortical blindness. Brain imaging shows an abnormally marked pontobulbar sulcus with mild pontine hypoplasia, white matter abnormalities, and atrophy in the occipital lobe. ",
"keywords": "KW-0887:Epilepsy.; "
}
]
}