Human Disease List
GET /api/human_diseases/?format=api&offset=4900&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4920&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4880&ordering=-identifier", "results": [ { "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 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 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 36.", "acronym": "DEE36.", "accession": "DI-03606", "synonyms": "CDG1S.; CDGIs.; CDG Is.; CDG-Is.; Congenital disorder of glycosylation 1s.; Congenital disorder of glycosylation type Is.; EIEE36.; Epileptic encephalopathy, early infantile, 36.; ", "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. Some DEE36 patients may present with an abnormal isoelectric focusing of serum transferrin, consistent with a diagnostic classification of congenital disorder of glycosylation type I. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. ", "keywords": "KW-0887:Epilepsy.; KW-0900:Congenital disorder of glycosylation.; " }, { "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 31B.", "acronym": "DEE31B.", "accession": "DI-06666", "synonyms": null, "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. DEE31B is an autosomal recessive form with onset in the first months of life. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Developmental and epileptic encephalopathy 31A.", "acronym": "DEE31A.", "accession": "DI-04414", "synonyms": "DEE31.; Developmental and epileptic encephalopathy 31.; EIEE31.; Epileptic encephalopathy, early infantile, 31.; ", "cross_references": "MeSH; D013036.", "definition": "An autosomal dominant 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 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 3.", "acronym": "DEE3.", "accession": "DI-00473", "synonyms": "Early myoclonic encephalopathy.; EIEE3.; EME.; Epileptic encephalopathy, early infantile, 3.; 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. DEE3 is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis is poor, with no effective treatment, and children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state. ", "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.; " } ] }