{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5060&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5020&ordering=synonyms","results":[{"identifier":"Dystonia 28, childhood-onset.","acronym":"DYT28.","accession":"DI-04935","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. DYT28 is an autosomal dominant, progressive form characterized by onset in the first decade of life and variable severity. Dystonia begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 30.","acronym":"DYT30.","accession":"DI-06091","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. DYT30 is characterized by early onset and predominantly cervical, bulbar, orofacial, and upper limb involvement. Some patients have a more complex phenotype with neurocognitive impairment, including mild intellectual disability or psychiatric manifestations. Loss of ambulation is observed in some cases. DYT30 inheritance is autosomal dominant with incomplete penetrance. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 32.","acronym":"DYT32.","accession":"DI-06279","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. DYT32 is an autosomal recessive, slowly progressive form with onset in adulthood and generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 33.","acronym":"DYT33.","accession":"DI-06304","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. DYT33 is a slowly progressive form characterized by onset of focal or generalized dystonia in the first decades of life. Disease manifestations are variable. Some patients show ambulation difficulties, dysarthria, or dysphagia. Some affected individuals may manifest motor delay, lower limb spasticity, and mild developmental delay with intellectual disability. DYT33 penetrance is incomplete. Inheritance can be autosomal dominant or recessive. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 34, myoclonic.","acronym":"DYT34.","accession":"DI-06323","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. DYT34 is an autosomal dominant form characterized by childhood-onset dystonia predominantly affecting hands and neck, with a fast tremor with superimposed myoclonus and, in some individuals, subtle cerebellar signs. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 35, childhood-onset.","acronym":"DYT35.","accession":"DI-06446","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. DYT35 is an autosomal recessive form characterized by the onset of a dystonic movement disorder in the first year of life. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 37, early-onset, with striatal lesions.","acronym":"DYT37.","accession":"DI-06706","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. DYT37 is an autosomal recessive form characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life. Affected individuals show delayed motor development and may have impaired intellectual development. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Cardiomyopathy, dilated, 2F.","acronym":"CMD2F.","accession":"DI-06345","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2F is an autosomal recessive, early-onset form. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Cardiomyopathy, dilated, 2E.","acronym":"CMD2E.","accession":"DI-06212","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2E is an autosomal recessive form with neonatal or early childhood onset and rapid progression to cardiac failure. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Cardiomyopathy, dilated, 2D.","acronym":"CMD2D.","accession":"DI-06135","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2D is an autosomal recessive, severe form with neonatal onset. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Cardiomyopathy, dilated, 2C.","acronym":"CMD2C.","accession":"DI-05389","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2C is an autosomal recessive form with variable severity and age of onset ranging from 2 to 20 years. Death in infancy or early childhood may occur in severely affected children. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Dystonia, early-onset, and/or spastic paraplegia.","acronym":"DYTSPG.","accession":"DI-06301","synonyms":null,"cross_references":"MeSH; D020821.","definition":"An autosomal dominant, highly penetrant movement disorder characterized by spastic paraplegia and/or dystonia to varying degrees in affected individuals. Cognition is not affected. There is high intra- and interfamilial variability in phenotype and age of onset. Some patients have onset of progressive focal or generalized dystonia in the first decade, whereas others develop progressive spastic paraplegia as adults. Some affected individuals have manifestations of both disorders. ","keywords":"KW-0890:Hereditary spastic paraplegia.; KW-1023:Dystonia.; "},{"identifier":"Early-onset hypertension with severe exacerbation in pregnancy.","acronym":"EOHSEP.","accession":"DI-01513","synonyms":null,"cross_references":"MeSH; D006973.","definition":"Inheritance is autosomal dominant. The disease is characterized by the onset of severe hypertension before the age of 20, and by suppression of aldosterone secretion. ","keywords":null},{"identifier":"Cardiomyopathy, dilated, 2B.","acronym":"CMD2B.","accession":"DI-03469","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type.","acronym":"ECTD12.","accession":"DI-04948","synonyms":null,"cross_references":"MeSH; D004476.","definition":"A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD12 is an autosomal dominant, hypohidrotic form characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth, and the inability to sweat due to defective development of sweat glands. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Ectodermal dysplasia 13, hair/tooth type.","acronym":"ECTD13.","accession":"DI-04968","synonyms":null,"cross_references":"MeSH; D004476.","definition":"A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD13 is an autosomal recessive form characterized by severe oligodontia accompanied by anomalies of hair and skin. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis.","acronym":"ECTD14.","accession":"DI-05382","synonyms":null,"cross_references":"MeSH; D004476.","definition":"A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD14 is an autosomal recessive form characterized by scalp hypotrichosis, hypodontia, and mild facial dysmorphism. Some patients have decreased sweating. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Ectodermal dysplasia 15, hypohidrotic/hair type.","acronym":"ECTD15.","accession":"DI-05636","synonyms":null,"cross_references":"MeSH; D004476.","definition":"A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD15 is an autosomal recessive form characterized by hypotrichosis and absence of sweating except with extreme exercise. Skin is dry from birth and eczematous lesions may develop in adulthood. Other features include blepharitis and photophobia. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Cardiomyopathy, dilated, 1PP.","acronym":"CMD1PP.","accession":"DI-06707","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1PP inheritance is autosomal dominant. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Ectodermal dysplasia 7, hair/nail type.","acronym":"ECTD7.","accession":"DI-04166","synonyms":null,"cross_references":"MeSH; D004476.","definition":"A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. Ectodermal dysplasia of the hair/nail type is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations. ","keywords":"KW-0038:Ectodermal dysplasia.; KW-1063:Hypotrichosis.; "}]}