{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1720&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1680&ordering=-synonyms","results":[{"identifier":"Deafness, autosomal recessive, 25.","acronym":"DFNB25.","accession":"DI-02537","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural deafness characterized by moderate to severe or profound hearing loss which is progressive in some individuals but not in others. Speech development is impaired in some but not all affected individuals, and vestibular dysfunction is observed in some affected individuals. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 26.","acronym":"DFNB26.","accession":"DI-05262","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural deafness characterized by prelingual, severe to profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Atrial fibrillation, familial, 10.","acronym":"ATFB10.","accession":"DI-03122","synonyms":null,"cross_references":"MeSH; D001281.","definition":"A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ","keywords":"KW-1020:Atrial fibrillation.; "},{"identifier":"Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.","acronym":"HIDEA.","accession":"DI-05609","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties. Disease onset is in infancy and death due to respiratory insufficiency may occur. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Amegakaryocytic thrombocytopenia, congenital, 1.","acronym":"CAMT1.","accession":"DI-01388","synonyms":null,"cross_references":"MeSH; D013921.","definition":"An autosomal recessive form of congenital amegakaryocytic thrombocytopenia, a hematologic disorder characterized by severe reduction of megakaryocytes and platelets at birth, and evolving into generalized bone marrow aplasia during childhood. ","keywords":null},{"identifier":"Deafness, autosomal recessive, 30.","acronym":"DFNB30.","accession":"DI-00870","synonyms":null,"cross_references":"MeSH; D003638.","definition":"A form of non-syndromic deafness characterized by bilateral progressive hearing loss, which first affects the high frequencies. Hearing loss begins in the second decade, and by age 50 is severe in high and middle frequencies and moderate at low frequencies. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Carpal tunnel syndrome 2.","acronym":"CTS2.","accession":"DI-06003","synonyms":null,"cross_references":"MeSH; D002349.","definition":"An autosomal dominant form of carpal tunnel syndrome, a condition characterized by entrapment of the median nerve within the carpal tunnel. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. This condition may be associated with repetitive occupational trauma, wrist injuries, amyloid neuropathies, rheumatoid arthritis. ","keywords":null},{"identifier":"Hypertriglyceridemia 2.","acronym":"HYTG2.","accession":"DI-06131","synonyms":null,"cross_references":"MeSH; D015228.","definition":"An autosomal dominant form of hypertriglyceridemia, a disorder characterized by elevated plasma triglyceride levels. HYTG2 patients also have increased total cholesterol levels and low levels of high density lipoprotein (HDL) cholesterol. Reduced penetrance has been observed. ","keywords":null},{"identifier":"Deafness, autosomal recessive, 35.","acronym":"DFNB35.","accession":"DI-00872","synonyms":null,"cross_references":"MeSH; D003638.","definition":"A form of non-syndromic deafness characterized by non-progressive, prelingual hearing loss. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Atrial fibrillation, familial, 11.","acronym":"ATFB11.","accession":"DI-03142","synonyms":null,"cross_references":"MeSH; D001281.","definition":"A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ","keywords":"KW-1020:Atrial fibrillation.; "},{"identifier":"Carpenter syndrome 2.","acronym":"CRPT2.","accession":"DI-03635","synonyms":null,"cross_references":"MeSH; D000168.","definition":"An autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease. ","keywords":"KW-0989:Craniosynostosis.; "},{"identifier":"Atrial fibrillation, familial, 12.","acronym":"ATFB12.","accession":"DI-03143","synonyms":null,"cross_references":"MeSH; D001281.","definition":"A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ","keywords":"KW-1020:Atrial fibrillation.; "},{"identifier":"Caspase-8 deficiency.","acronym":"CASP8D.","accession":"DI-01326","synonyms":null,"cross_references":"MedGen; C1846545.","definition":"Disorder resembling autoimmune lymphoproliferative syndrome (ALPS). It is characterized by lymphadenopathy, splenomegaly, and defective CD95- induced apoptosis of peripheral blood lymphocytes (PBLs). It leads to defects in activation of T-lymphocytes, B-lymphocytes, and natural killer cells leading to immunodeficiency characterized by recurrent sinopulmonary and herpes simplex virus infections and poor responses to immunization. ","keywords":null},{"identifier":"Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1.","acronym":"PEBEL1.","accession":"DI-04879","synonyms":null,"cross_references":"MeSH; D020271.","definition":"An autosomal recessive severe neurometabolic disorder characterized by severe leukoencephalopathy usually associated with a trivial febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures. Disease course is rapidly progressive, leading to coma, global brain atrophy, and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Deafness, autosomal recessive, 44.","acronym":"DFNB44.","accession":"DI-04170","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by prelingual profound hearing loss affecting all frequencies. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Atrial fibrillation, familial, 13.","acronym":"ATFB13.","accession":"DI-03855","synonyms":null,"cross_references":"MeSH; D001281.","definition":"A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ","keywords":"KW-1020:Atrial fibrillation.; "},{"identifier":"Amegakaryocytic thrombocytopenia, congenital, 2.","acronym":"CAMT2.","accession":"DI-06746","synonyms":null,"cross_references":"MeSH; D013921.","definition":"A form of congenital amegakaryocytic thrombocytopenia, a hematologic disorder characterized by severe reduction of megakaryocytes and platelets at birth, and evolving into generalized bone marrow aplasia during childhood. CAMT2 is an autosomal recessive form. Most patients present with thrombocytopenia that progresses to pancytopenia. ","keywords":null},{"identifier":"Immunodeficiency 94 with autoinflammation and dysmorphic facies.","acronym":"IMD94.","accession":"DI-06346","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal dominant disorder characterized by onset in early infancy, lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features. ","keywords":null},{"identifier":"Atrial fibrillation, familial, 14.","acronym":"ATFB14.","accession":"DI-03856","synonyms":null,"cross_references":"MeSH; D001281.","definition":"A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ","keywords":"KW-1020:Atrial fibrillation.; "},{"identifier":"Long QT syndrome 3.","acronym":"LQT3.","accession":"DI-00681","synonyms":null,"cross_references":"MeSH; D008133.","definition":"A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. ","keywords":"KW-0454:Long QT syndrome.; "}]}