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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1780&ordering=synonyms",
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"results": [
{
"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 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": "Epilepsy, idiopathic generalized 10.",
"acronym": "EIG10.",
"accession": "DI-02485",
"synonyms": "EIG10.; Susceptibility to idiopathic generalized epilepsy 10.; ",
"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": "Familial infantile myoclonic epilepsy.",
"acronym": "FIME.",
"accession": "DI-02926",
"synonyms": "EIM.; ",
"cross_references": "MeSH; D004831.",
"definition": "A subtype of idiopathic epilepsy starting in early infancy and manifesting as myoclonic seizures, febrile convulsions, and tonic- clonic seizures. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Juvenile absence epilepsy 1.",
"acronym": "JAE1.",
"accession": "DI-00613",
"synonyms": "EJA1.; Susceptibility to juvenile absence epilepsy 1.; ",
"cross_references": "MeSH; D004832.",
"definition": "A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Juvenile absence epilepsy 2.",
"acronym": "JAE2.",
"accession": "DI-02591",
"synonyms": "EJA2.; Susceptibility to juvenile absence epilepsy 2.; ",
"cross_references": "MeSH; D004832.",
"definition": "A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "MEDNIK syndrome.",
"acronym": "MEDNIK.",
"accession": "DI-03642",
"synonyms": "EKV3.; Erythrokeratodermia variabilis 3.; Erythrokeratodermia variabilis Kamouraska type.; Impaired intellectual development, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma.; ",
"cross_references": "MeSH; D056266.",
"definition": "A disorder characterized by erythematous skin lesions and hyperkeratosis, severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss, together with elevated very-long-chain fatty acids and severe congenital diarrhea. ",
"keywords": "KW-0209:Deafness.; KW-0622:Neuropathy.; KW-0977:Ichthyosis.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Ovalocytosis, Southeast Asian.",
"acronym": "SAO.",
"accession": "DI-00448",
"synonyms": "EL4.; Elliptocytosis, stomatocytic hereditary.; Elliptocytosis 4.; HE, stomatocytic.; Ovalocytosis, Malaysian-Melanesian-Filipino type.; Ovalocytosis, SA type.; ",
"cross_references": "MeSH; D004612.",
"definition": "An autosomal dominant hematologic disorder characterized by ovalocytic erythrocytes that are rigid and exhibit reduced expression of many erythrocyte antigens. Clinical manifestations include mild hemolysis, intermittent jaundice and gallstones. However, the disorder is most often asymptomatic. ",
"keywords": "KW-0250:Elliptocytosis.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 53.",
"acronym": "COXPD53.",
"accession": "DI-06163",
"synonyms": "Elbracht-Isikay syndrome.; Global developmental delay, progressive microcephaly, structural brain abnormalities, and autoinflammation.; ",
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by global developmental delay, hypomyelination, cerebral atrophy, microcephaly, liver dysfunction, and recurrent autoinflammation. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Elejalde syndrome.",
"acronym": "ELEJAS.",
"accession": "DI-01519",
"synonyms": "Elejalde disease.; Neuroectodermal melanolysosomal disease.; ",
"cross_references": "MeSH; D020752.",
"definition": "Autosomal recessive condition characterized by skin hypopigmentation, the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytes and primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type I. ",
"keywords": null
},
{
"identifier": "Elliptocytosis 1.",
"acronym": "EL1.",
"accession": "DI-00445",
"synonyms": "Elliptocytosis Rhesus-linked type.; Ovalocytosis.; ",
"cross_references": "MeSH; D004612.",
"definition": "A Rhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. ",
"keywords": "KW-0250:Elliptocytosis.; "
},
{
"identifier": "Elliptocytosis 2.",
"acronym": "EL2.",
"accession": "DI-00446",
"synonyms": "Elliptocytosis Rhesus-unlinked type.; Ovalocytosis.; ",
"cross_references": "MeSH; D004612.",
"definition": "A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. ",
"keywords": "KW-0250:Elliptocytosis.; "
},
{
"identifier": "Elliptocytosis 3.",
"acronym": "EL3.",
"accession": "DI-00447",
"synonyms": "Elliptocytosis Rhesus-unlinked type.; Ovalocytosis.; ",
"cross_references": "MeSH; D004612.",
"definition": "A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous hematologic disorder characterized by variable hemolytic anemia and elliptical or oval red cell shape. Inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": "KW-0250:Elliptocytosis.; "
},
{
"identifier": "Glutaric aciduria 2A.",
"acronym": "GA2A.",
"accession": "DI-00513",
"synonyms": "EMA.; ETFA deficiency.; Ethylmalonic-adipicaciduria.; GAIIA.; Glutaricaciduria IIA.; MADD.; Multiple acyl-CoA dehydrogenase deficiency.; ",
"cross_references": "MeSH; D054069.",
"definition": "An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. ",
"keywords": "KW-0316:Glutaricaciduria.; "
},
{
"identifier": "Glutaric aciduria 2B.",
"acronym": "GA2B.",
"accession": "DI-00514",
"synonyms": "EMA.; ETFB deficiency.; Ethylmalonic-adipicaciduria.; GAIIB.; Glutaricaciduria IIB.; MADD.; Multiple acyl-CoA dehydrogenase deficiency.; ",
"cross_references": "MeSH; D054069.",
"definition": "An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. ",
"keywords": "KW-0316:Glutaricaciduria.; "
},
{
"identifier": "Glutaric aciduria 2C.",
"acronym": "GA2C.",
"accession": "DI-00515",
"synonyms": "EMA.; ETFDH deficiency.; Ethylmalonic-adipicaciduria.; GAIIC.; Glutaricaciduria IIC.; MADD.; Multiple acyl-CoA dehydrogenase deficiency.; ",
"cross_references": "MeSH; D054069.",
"definition": "An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. ",
"keywords": "KW-0316:Glutaricaciduria.; "
}
]
}