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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2240&ordering=identifier",
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"results": [
{
"identifier": "Epilepsy, idiopathic generalized 8.",
"acronym": "EIG8.",
"accession": "DI-02484",
"synonyms": "Susceptibility to idiopathic generalized epilepsy 8.; ",
"cross_references": "MeSH; D004829.",
"definition": "A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Seizure types are variable, but include myoclonic seizures, absence seizures, febrile seizures, complex partial seizures, and generalized tonic-clonic seizures. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, idiopathic generalized 9.",
"acronym": "EIG9.",
"accession": "DI-00593",
"synonyms": "Susceptibility to idiopathic generalized epilepsy 9.; ",
"cross_references": "MeSH; D004829.",
"definition": "A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, nocturnal frontal lobe, 1.",
"acronym": "ENFL1.",
"accession": "DI-00819",
"synonyms": "ADNFLE.; Autosomal dominant nocturnal frontal lobe epilepsy.; ",
"cross_references": "MeSH; D017034.",
"definition": "An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, nocturnal frontal lobe, 3.",
"acronym": "ENFL3.",
"accession": "DI-00820",
"synonyms": null,
"cross_references": "MeSH; D017034.",
"definition": "An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, nocturnal frontal lobe, 4.",
"acronym": "ENFL4.",
"accession": "DI-00821",
"synonyms": "Familial epilepsy with nocturnal wandering and ictal fear.; ",
"cross_references": "MeSH; D017034.",
"definition": "An autosomal dominant focal epilepsy characterized by nocturnal seizures associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, nocturnal frontal lobe, 5.",
"acronym": "ENFL5.",
"accession": "DI-03663",
"synonyms": null,
"cross_references": "MeSH; D017034.",
"definition": "An autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of nocturnal frontal lobe epilepsy. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 1.",
"acronym": "EPM1.",
"accession": "DI-00952",
"synonyms": "Baltic myoclonic epilepsy.; EPM1A.; Myoclonic epilepsy of Unverricht and Lundborg.; Progressive myoclonic epilepsy 1.; Progressive myoclonic epilepsy 1A.; Progressive myoclonic epilepsy Unverricht-Lundborg type.; ULD.; ",
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM1 is an autosomal recessive form characterized by severe, stimulus- sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small, they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration and eventually dementia develop. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 10.",
"acronym": "EPM10.",
"accession": "DI-04581",
"synonyms": "Early-onset Lafora body disease.; ",
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM10 is an autosomal recessive form characterized by progressive dysarthria, myoclonus, ataxia, cognitive decline, psychosis, dementia and spasticity, with onset in childhood. There is variability between patients. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 11.",
"acronym": "EPM11.",
"accession": "DI-05834",
"synonyms": null,
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM11 is an autosomal dominant form. Clinical features include normal or mildly delayed early development, developmental regression after seizures onset, inability to walk, severely impaired intellectual development, poor or absent speech, spasticity, ataxia, and intention tremor. Brain imaging shows cerebellar atrophy in some patients. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 12.",
"acronym": "EPM12.",
"accession": "DI-06052",
"synonyms": null,
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM12 is an autosomal recessive form characterized by onset of tonic-clonic seizures and/or myoclonus in the second decade of life. Affected individuals develop cerebellar ataxia associated with progressive cerebral and cerebellar atrophy on brain imaging. Most patients lose ambulation and become wheelchair-bound. Additional more variable features include mild cognitive dysfunction or psychiatric manifestations, such as depression or anxiety. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 1B.",
"acronym": "EPM1B.",
"accession": "DI-00953",
"synonyms": null,
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM1B is an autosomal recessive form characterized by myoclonus that progressed in severity over time, tonic-clonic seizures and ataxia. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 3, with or without intracellular inclusions.",
"acronym": "EPM3.",
"accession": "DI-00955",
"synonyms": "CLN14.; Neuronal ceroid lipofuscinosis 14.; Progressive myoclonic epilepsy 3.; ",
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM3 is an autosomal recessive, severe, form with early onset. Multifocal myoclonic seizures begin between 16 and 24 months of age after normal initial development. Neurodegeneration and regression occur with seizure onset. Other features include intellectual disability, dysarthria, truncal ataxia, and loss of fine finger movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges. In some patients, ultrastructural findings on skin biopsies identify intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis. ",
"keywords": "KW-0525:Neuronal ceroid lipofuscinosis.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 4, with or without renal failure.",
"acronym": "EPM4.",
"accession": "DI-01169",
"synonyms": "Action myoclonus-renal failure syndrome.; AMRF.; Myoclonus-nephropathy syndrome.; ",
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM4 is an autosomal recessive form associated with renal failure in some cases. Cognitive function is preserved. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 6.",
"acronym": "EPM6.",
"accession": "DI-03161",
"synonyms": null,
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM6 is an autosomal recessive form characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 7.",
"acronym": "EPM7.",
"accession": "DI-04310",
"synonyms": null,
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM7 is an autosomal dominant form characterized by myoclonic epilepsy apparent in the first or second decades of life. Cognitive function may decline in some patients. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 8.",
"acronym": "EPM8.",
"accession": "DI-04341",
"synonyms": null,
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM8 is an autosomal recessive form characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 9.",
"acronym": "EPM9.",
"accession": "DI-04510",
"synonyms": null,
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM9 is an autosomal recessive form characterized by myoclonus, tonic-clonic seizures, ataxia, and delayed psychomotor development. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp.",
"acronym": "EPRPDC.",
"accession": "DI-05646",
"synonyms": "RE-PED-WC.; ",
"cross_references": "MeSH; D019305.",
"definition": "An autosomal recessive neurologic disorder characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Clinical features include involuntary movements and difficulties with fine motor skills of the hand. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders.",
"acronym": "EPILX1.",
"accession": "DI-00470",
"synonyms": "Bathing epilepsy, X-linked.; Epilepsy, X-linked, with reflex bathing seizures.; ",
"cross_references": "MeSH; D019954.",
"definition": "A neurologic disorder characterized by variable combinations of epilepsy, learning difficulties, macrocephaly, and aggressive behavior. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features.",
"acronym": "EPILX2.",
"accession": "DI-06540",
"synonyms": null,
"cross_references": "MeSH; D004827.",
"definition": "A neurologic disorder characterized by variable combinations of epileptic seizure, and a varying degree of intellectual disability and developmental delay. Some patients have dysmorphic facial features or mild skeletal anomalies. In general, males are more severely affected than females, although there is evidence for incomplete penetrance in both sexes. ",
"keywords": "KW-0887:Epilepsy.; "
}
]
}