{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1440&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1400&ordering=-synonyms","results":[{"identifier":"Brugada syndrome 4.","acronym":"BRGDA4.","accession":"DI-00205","synonyms":null,"cross_references":"MeSH; D053840.","definition":"A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ","keywords":"KW-0992:Brugada syndrome.; "},{"identifier":"Deafness, autosomal dominant, 90.","acronym":"DFNA90.","accession":"DI-06850","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss 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. DFNA90 is characterized by bilateral progressive hearing loss that affects all frequencies. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Brugada syndrome 5.","acronym":"BRGDA5.","accession":"DI-02502","synonyms":null,"cross_references":"MeSH; D053840.","definition":"A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ","keywords":"KW-0992:Brugada syndrome.; "},{"identifier":"Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities.","acronym":"ARCME.","accession":"DI-06765","synonyms":null,"cross_references":"MeSH; D009202.","definition":"An autosomal recessive disorder characterized by life-threatening dilated cardiomyopathy in early childhood, with or without features of inflammation on cardiac histology. There is also a variably expressed ectodermal phenotype, including wooly or wiry hair, wedged teeth, xerotic skin, and dystrophic nails. Cleft lip and palate and corneal abnormalities have also been observed. ","keywords":"KW-0038:Ectodermal dysplasia.; KW-0122:Cardiomyopathy.; "},{"identifier":"Brugada syndrome 6.","acronym":"BRGDA6.","accession":"DI-02501","synonyms":null,"cross_references":"MeSH; D053840.","definition":"A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ","keywords":"KW-0992:Brugada syndrome.; "},{"identifier":"Deafness, autosomal recessive, 107.","acronym":"DFNB107.","accession":"DI-05057","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural 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":"Brugada syndrome 7.","acronym":"BRGDA7.","accession":"DI-02503","synonyms":null,"cross_references":"MeSH; D053840.","definition":"A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ","keywords":"KW-0992:Brugada syndrome.; "},{"identifier":"Allergic rhinitis.","acronym":"ALRH.","accession":"DI-02868","synonyms":null,"cross_references":"MeSH; D012221.","definition":"A common disease with complex inheritance characterized by mucosal inflammation caused by allergen exposure. ","keywords":null},{"identifier":"Brugada syndrome 8.","acronym":"BRGDA8.","accession":"DI-02557","synonyms":null,"cross_references":"MeSH; D053840.","definition":"A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ","keywords":"KW-0992:Brugada syndrome.; "},{"identifier":"Congenital myopathy 20.","acronym":"CMYP20.","accession":"DI-06640","synonyms":null,"cross_references":"MeSH; D020914.","definition":"An autosomal recessive neuromuscular disorder characterized by variable manifestations. Some patients have congenital limb or distal contractures manifesting soon after birth, while others develop muscle weakness with difficulty running and climbing stairs in early childhood. Additional features may include facial dysmorphism, and delayed development with intellectual disability. Skeletal muscle biopsy may show variation in fiber size with type 1 fiber predominance and atrophy, hypertrophic type 2 fibers, and abundant nemaline bodies. ","keywords":null},{"identifier":"Congenital myopathy 21 with early respiratory failure.","acronym":"CMYP21.","accession":"DI-06656","synonyms":null,"cross_references":"MeSH; D020914.","definition":"An autosomal recessive muscle disorder characterized by diaphragmatic weakness, respiratory impairment, and spinal rigidity. Disease onset ranges from early childhood to adulthood and severity is variable. Death from respiratory failure may occur in severe cases. Some affected individuals may show developmental delay and hypertrophic cardiomyopathy. ","keywords":null},{"identifier":"Congenital myopathy 22A, classic.","acronym":"CMYP22A.","accession":"DI-06672","synonyms":null,"cross_references":"MeSH; D020914.","definition":"A form of congenital myopathy, a clinically and genetically heterogeneous group of muscle disorders characterized by hypotonia and muscle weakness apparent at birth, and specific pathological features on muscle biopsy. CMYP22A is an autosomal recessive form characterized by fetal hypokinesia, polyhydramnios, and severe neonatal hypotonia associated with respiratory insufficiency. Affected individuals who survive the neonatal period have delayed motor development, difficulty walking, proximal muscle weakness of the upper and lower limbs, facial and neck muscle weakness, easy fatigability, and mild limb contractures or foot deformities. ","keywords":null},{"identifier":"Congenital myopathy 22B, severe fetal.","acronym":"CMYP22B.","accession":"DI-06673","synonyms":null,"cross_references":"MeSH; D020914.","definition":"A severe congenital myopathy, a clinically and genetically heterogeneous group of muscle disorders characterized by hypotonia and muscle weakness apparent at birth, and specific pathological features on muscle biopsy. CMYP22B is an autosomal recessive form characterized by onset in utero. Affected individuals show fetal akinesia, and develop fetal hydrops with pulmonary hypoplasia, severe joint contractures, and generalized muscle hypoplasia. Death occurs in utero or soon after birth. ","keywords":null},{"identifier":"Brunet-Wagner neurodevelopmental syndrome.","acronym":"BRUWAG.","accession":"DI-06308","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by severe developmental delay, intellectual disability, poor or absent speech, infantile hypotonia, inability to walk, behavioral abnormalities, and dysmorphic features. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Coronary heart disease 7.","acronym":"CHDS7.","accession":"DI-02841","synonyms":null,"cross_references":"MeSH; D003327.","definition":"A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. ","keywords":null},{"identifier":"Cornelia de Lange syndrome 4 with or without midline brain defects.","acronym":"CDLS4.","accession":"DI-03491","synonyms":null,"cross_references":"MeSH; D003635.","definition":"A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Congenital myopathy 2B, severe infantile, autosomal recessive.","acronym":"CMYP2B.","accession":"DI-06621","synonyms":null,"cross_references":"MeSH; D020512.","definition":"An autosomal recessive skeletal muscle disorder characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood. Longer survival has been reported. ","keywords":null},{"identifier":"Congenital myopathy 2C, severe infantile, autosomal dominant.","acronym":"CMYP2C.","accession":"DI-06622","synonyms":null,"cross_references":"MeSH; D020512.","definition":"An autosomal dominant skeletal muscle disorder characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life. Patients present at birth with hypotonia, lack of antigravity movements, poor head control, and difficulties feeding or breathing, often requiring tube-feeding and mechanical ventilation. Decreased fetal movements may be observed in some cases. ","keywords":null},{"identifier":"Bryant-Li-Bhoj neurodevelopmental syndrome 2.","acronym":"BRYLIB2.","accession":"DI-06328","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder predominantly characterized by global developmental delay, impaired intellectual development, poor or absent speech, and delayed motor milestones. Clinical manifestations are highly variable, including abnormal head shape, dysmorphic facial features, oculomotor abnormalities, feeding problems, and non-specific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal dominant 45.","acronym":"MRD45.","accession":"DI-05061","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. MRD45 patients manifest developmental delay, variable intellectual disability, and behavioral disorders, including autistic features, attention deficit, and hyperactivity. ","keywords":"KW-0991:Intellectual disability.; "}]}