{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4940&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4900&ordering=synonyms","results":[{"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":"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":"Cardiomyopathy, familial hypertrophic, 7.","acronym":"CMH7.","accession":"DI-00237","synonyms":null,"cross_references":"MeSH; D024741.","definition":"A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"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":"Cardiomyopathy, familial hypertrophic, 4.","acronym":"CMH4.","accession":"DI-00236","synonyms":null,"cross_references":"MeSH; D024741.","definition":"A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Immunodeficiency 40.","acronym":"IMD40.","accession":"DI-04461","synonyms":null,"cross_references":"MeSH; D016511.","definition":"A form of combined immunodeficiency characterized by lymphopenia, and defective T-cell, B-cell, and NK-cell responses. Patients suffer from severe invasive bacterial and viral infections in early childhood and may die without bone marrow transplantation. ","keywords":null},{"identifier":"Cardiomyopathy, familial hypertrophic, 30, atrial.","acronym":"CMH30.","accession":"DI-06853","synonyms":null,"cross_references":"MeSH; D009202.","definition":"An autosomal recessive heart disease characterized by enlarged and thickened left atrium, left atrial fibrosis, atrial arrhythmias, and hypertension. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Dystonia 22, juvenile-onset.","acronym":"DYT22JO.","accession":"DI-06726","synonyms":null,"cross_references":"MeSH; D004421.","definition":"A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT22JO is an autosomal recessive form characterized by progressive, generalized dystonia associated with intellectual disability, cognitive decline, and cerebellar atrophy. ","keywords":"KW-0991:Intellectual disability.; KW-1023:Dystonia.; "},{"identifier":"Dystonia 23.","acronym":"DYT23.","accession":"DI-04376","synonyms":null,"cross_references":"MeSH; D004421.","definition":"A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Cardiomyopathy, familial hypertrophic, 3.","acronym":"CMH3.","accession":"DI-00235","synonyms":null,"cross_references":"MeSH; D024741.","definition":"A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Diarrhea 10, protein-losing enteropathy type.","acronym":"DIAR10.","accession":"DI-05384","synonyms":null,"cross_references":"MeSH; D003968.","definition":"An autosomal recessive, congenital diarrheal disorder characterized by intractable secretory diarrhea with massive protein loss due to leaky fenestrated capillaries, severe hypoalbuminemia, hypogammaglobulinemia, hypertriglyceridemia, and electrolyte abnormalities. Disease severity is variable and death in infancy may occur in severe cases. Some patients show facial dysmorphic features, and cardiac and renal abnormalities. ","keywords":null},{"identifier":"Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies.","acronym":"CMH29.","accession":"DI-06602","synonyms":null,"cross_references":"MeSH; D024741.","definition":"A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH29 is an autosomal recessive form associated with a poor prognosis due to lethal arrhythmias and cardiac failure. Cardiac muscle biopsies show intermyofibrillar accumulation of glycogen and polyglucosan bodies within cardiomyocytes. Intermyofibrillar glycogen accumulation is also present in skeletal muscle. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Cardiomyopathy, familial hypertrophic, 28.","acronym":"CMH28.","accession":"DI-06150","synonyms":null,"cross_references":"MeSH; D024741.","definition":"A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH28 is an autosomal dominant form with incomplete penetrance. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Developmental and epileptic encephalopathy 89.","acronym":"DEE89.","accession":"DI-05990","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. DEE89 is an autosomal recessive severe form characterized by profound global developmental delay with impaired intellectual development, absent speech, inability to sit or walk due to axial hypotonia and spastic quadriparesis, and onset of seizures in the first days or months of life. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Developmental and epileptic encephalopathy 90.","acronym":"DEE90.","accession":"DI-06025","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. DEE90 is an X-linked form characterized by onset of refractory seizures in the first days or months of life. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Developmental and epileptic encephalopathy 96.","acronym":"DEE96.","accession":"DI-06117","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. DEE96 is an autosomal dominant form characterized by onset of seizures in the first days or weeks of life. Affected infants also have hypotonia with respiratory insufficiency that may result in premature death. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Developmental and epileptic encephalopathy 97.","acronym":"DEE97.","accession":"DI-06248","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. DEE97 is an autosomal dominant form. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Developmental and epileptic encephalopathy 98.","acronym":"DEE98.","accession":"DI-06264","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. DEE98 is an autosomal dominant form characterized by onset of seizures in the first decade. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Developmental and epileptic encephalopathy 99.","acronym":"DEE99.","accession":"DI-06265","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. DEE99 is an autosomal dominant form characterized by onset of seizures in early childhood. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "}]}