{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1820&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1780&ordering=-synonyms","results":[{"identifier":"Developmental and epileptic encephalopathy 109.","acronym":"DEE109.","accession":"DI-06557","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. DEE109 is an autosomal dominant form characterized by the onset of various types of seizures in the first months or years of life. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2.","acronym":"CHINE2.","accession":"DI-06696","synonyms":null,"cross_references":"MeSH; D009404.","definition":"An autosomal recessive disorder characterized by infantile onset of steroid-resistant nephrotic syndrome, cataracts, sensorineural deafness, and enterocolitis. It results in death in early childhood. ","keywords":"KW-0209:Deafness.; KW-0898:Cataract.; "},{"identifier":"Cataracts, spastic paraparesis, and speech delay.","acronym":"CSPSD.","accession":"DI-06115","synonyms":null,"cross_references":"MeSH; D009461.","definition":"An autosomal dominant disease characterized by bilateral cataracts apparent at birth or in infancy, spastic paraparesis, truncal hypotonia, delayed psychomotor development, and speech delay. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Developmental and epileptic encephalopathy 110.","acronym":"DEE110.","accession":"DI-06558","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. DEE110 is an autosomal recessive form characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Developmental and epileptic encephalopathy 111.","acronym":"DEE111.","accession":"DI-06760","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. DEE111 is an autosomal recessive form characterized by the onset of seizures in the first days, months, or years of life. Brain imaging shows frontal, parietal, and perisylvian polymicrogyria, dysmorphic basal ganglia and corpus callosum, and hypoplastic pons. Death in early childhood may occur. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Developmental and epileptic encephalopathy 112.","acronym":"DEE112.","accession":"DI-06775","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. DEE112 is an autosomal dominant form characterized by onset in infancy, and a wide range of seizure types including focal and generalized seizures. Cognitive outcomes range from normal intellect to profound intellectual development impairment. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Developmental and epileptic encephalopathy 113.","acronym":"DEE113.","accession":"DI-06871","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. DEE113 is an autosomal recessive form characterized by severe early-onset recurrent epilepsy. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Developmental and epileptic encephalopathy 114.","acronym":"DEE114.","accession":"DI-06866","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. DEE114 is an autosomal dominant form characterized by moderate-to-severe intellectual disability, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic or dyskinetic movement disorder. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Developmental and epileptic encephalopathy 115.","acronym":"DEE115.","accession":"DI-06882","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. DEE115 is an autosomal recessive, severe form characterized by onset soon after birth. Affected individuals show massive reduction of white matter, hypo- or aplasia of the corpus callosum, and neurodevelopmental arrest. Death in the first year of life may occur. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Developmental and epileptic encephalopathy 116.","acronym":"DEE116.","accession":"DI-06891","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. DEE116 is autosomal dominant form characterized by severe developmental delay, seizures, and white matter abnormalities. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Cavitary optic disc anomalies.","acronym":"CODA.","accession":"DI-04537","synonyms":null,"cross_references":"MeSH; D015785.","definition":"An ocular disease characterized by a profound excavation of the optic nerve. Clinical phenotype is variable and includes congenitally excavated optic nerves as well as other features of optic pit, optic nerve coloboma, and morning glory disk anomaly. Patients with CODA have a strong predilection for retinal detachment and/or separation of the retinal layers (retinoschisis) that lead to profound central vision loss. ","keywords":null},{"identifier":"Epilepsy, childhood absence 6.","acronym":"ECA6.","accession":"DI-03307","synonyms":null,"cross_references":"MeSH; D004832.","definition":"A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Atrioventricular septal defect 5.","acronym":"AVSD5.","accession":"DI-03369","synonyms":null,"cross_references":"MeSH; D004694.","definition":"A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. ","keywords":null},{"identifier":"Hyperinsulinemic hypoglycemia, familial, 5.","acronym":"HHF5.","accession":"DI-01583","synonyms":null,"cross_references":"MeSH; D007003.","definition":"A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF5 clinical features include loss of consciousness due to hypoglycemia and hypoglycemic seizures. HHF5 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Attention deficit-hyperactivity disorder 7.","acronym":"ADHD7.","accession":"DI-02574","synonyms":null,"cross_references":"MeSH; D001289.","definition":"A neurobehavioral developmental disorder primarily characterized by the coexistence of attentional problems and hyperactivity, with each behavior occurring infrequently alone. ","keywords":null},{"identifier":"Ventriculomegaly with cystic kidney disease.","acronym":"VMCKD.","accession":"DI-04346","synonyms":null,"cross_references":"MeSH; D052177.","definition":"A severe autosomal recessive developmental disorder manifesting in utero. It is characterized by cerebral ventriculomegaly, echogenic kidneys, microscopic renal tubular cysts and findings of congenital nephrosis. ","keywords":null},{"identifier":"Intellectual developmental disorder, autosomal dominant 34.","acronym":"MRD34.","accession":"DI-04418","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Ectodermal dysplasia/short stature syndrome.","acronym":"ECTDS.","accession":"DI-04239","synonyms":null,"cross_references":"MeSH; D004476.","definition":"An autosomal recessive ectodermal dysplasia syndrome characterized by nail dystrophy and/or loss, oral mucosa and/or tongue pigmentation, abnormal dentition, keratoderma affecting the margins of the palms and soles, focal hyperkeratosis of the dorsal aspects of the hands and feet, and short stature. ","keywords":"KW-0038:Ectodermal dysplasia.; KW-0242:Dwarfism.; "},{"identifier":"Attention deficit-hyperactivity disorder 8.","acronym":"ADHD8.","accession":"DI-06470","synonyms":null,"cross_references":"MeSH; D001289.","definition":"A form of attention deficit-hyperactivity disorder, a neurobehavioral developmental condition primarily characterized by the coexistence of attentional problems and hyperactivity, with each feature occurring infrequently alone. ADHD8 is an autosomal recessive form with onset in early childhood, usually by age 3 years. ADHD8 patients may manifest mild developmental delay with autism. ","keywords":null},{"identifier":"Meier-Gorlin syndrome 3.","acronym":"MGORS3.","accession":"DI-03045","synonyms":null,"cross_references":"MeSH; D008844.","definition":"A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. ","keywords":"KW-0242:Dwarfism.; "}]}