{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=680&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=640&ordering=-synonyms","results":[{"identifier":"Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome.","acronym":"CANVAS.","accession":"DI-05548","synonyms":null,"cross_references":"MeSH; D009461.","definition":"An autosomal recessive neurologic disease characterized by imbalance, cerebellar ataxia, impaired vestibular function, and non-length- dependent sensory deficit. ","keywords":"KW-0622:Neuropathy.; "},{"identifier":"Cardiomyopathy, familial hypertrophic, 16.","acronym":"CMH16.","accession":"DI-03037","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":"Cardiomyopathy, dilated, 2A.","acronym":"CMD2A.","accession":"DI-00229","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":"Anterior segment dysgenesis 8.","acronym":"ASGD8.","accession":"DI-04922","synonyms":null,"cross_references":"MeSH; D005124.","definition":"A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD8 patients predominantly manifest iris and lens abnormalities, in the absence of retinal abnormalities or extra- ocular features. ASGD8 transmission pattern is consistent with autosomal recessive inheritance. ","keywords":null},{"identifier":"Acromelic frontonasal dysostosis.","acronym":"AFND.","accession":"DI-04203","synonyms":null,"cross_references":"MeSH; D000013.","definition":"A rare variant form of frontonasal dysplasia, an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism, broadening of the nasal root, median facial cleft affecting the nose and/or upper lip and palate, unilateral or bilateral clefting of the alae nasi, lack of formation of the nasal tip, anterior cranium bifidum occultum, a V- shaped or widow's peak frontal hairline. AFND is characterized by the association of frontonasal malformations with various combinations of polydactyly, tibial hypoplasia, epibulbar dermoid, encephalocoele, corpus callosum agenesis and Dandy-Walker malformation. ","keywords":null},{"identifier":"Cardiomyopathy, dilated, 1M.","acronym":"CMD1M.","accession":"DI-00219","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":"Brachydactyly B2.","acronym":"BDB2.","accession":"DI-02844","synonyms":null,"cross_references":"MeSH; D059327.","definition":"A form of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. ","keywords":null},{"identifier":"Cardiomyopathy, dilated, 1I.","acronym":"CMD1I.","accession":"DI-00216","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":"Coloboma, ocular, autosomal recessive.","acronym":"COAR.","accession":"DI-04214","synonyms":null,"cross_references":"MeSH; D003103.","definition":"An ocular anomaly resulting from abnormal morphogenesis of the optic cup and stalk, and incomplete fusion of the fetal intra-ocular fissure during gestation. The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia. ","keywords":null},{"identifier":"Cardiomyopathy, dilated, 1NN.","acronym":"CMD1NN.","accession":"DI-04172","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":"Brachydactyly E2.","acronym":"BDE2.","accession":"DI-02711","synonyms":null,"cross_references":"MeSH; D059327.","definition":"A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. In brachydactyly type E2 variable combinations of metacarpals are involved, with shortening also of the first and third distal and the second and fifth middle phalanges. ","keywords":null},{"identifier":"Brachydactyly-syndactyly syndrome.","acronym":"BDSD.","accession":"DI-01291","synonyms":null,"cross_references":"MeSH; D059327.","definition":"A disease characterized by generalized shortening of the hands and feet, broad and short distal phalanges of the thumbs, and cutaneous syndactyly of toes 2 and 3. The limb phenotypes observed in this syndrome overlap those of brachydactyly types A4, D, E and syndactyly type 1. ","keywords":null},{"identifier":"Brachydactyly-syndactyly-oligodactyly syndrome.","acronym":"BDSDO.","accession":"DI-04740","synonyms":null,"cross_references":"MeSH; D059327.","definition":"A syndrome characterized by a complex brachydactyly-syndactyly- oligodactyly phenotype. Limb anomalies include reduced number of digits that are severely shortened, camptodactyly, syndactyly, absence of terminal phalanges of the thumbs, and absence of nails of the thumbs and toes. ","keywords":null},{"identifier":"Calcification of joints and arteries.","acronym":"CALJA.","accession":"DI-03016","synonyms":null,"cross_references":"MeSH; D002114.","definition":"A condition characterized by adult-onset calcification of the lower extremity arteries, including the iliac, femoral and tibial arteries, and hand and foot capsule joints. Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands. ","keywords":null},{"identifier":"Aortic aneurysm, familial thoracic 11.","acronym":"AAT11.","accession":"DI-04950","synonyms":null,"cross_references":"MeSH; D017545.","definition":"A form of thoracic aortic aneurysm, a disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. ","keywords":"KW-0993:Aortic aneurysm.; "},{"identifier":"Braddock-Carey syndrome 2.","acronym":"BRDCS2.","accession":"DI-06453","synonyms":null,"cross_references":"MeSH; D019465.","definition":"An autosomal recessive disease characterized by microcephaly, congenital thrombocytopenia, and facial dysmorphisms including Pierre- Robin sequence. ","keywords":null},{"identifier":"Brain abnormalities, neurodegeneration, and dysosteosclerosis.","acronym":"BANDDOS.","accession":"DI-05595","synonyms":null,"cross_references":"MeSH; D019636.","definition":"An autosomal recessive disease with variable manifestations. Main features are brain malformations with calcifying leukoencephalopathy, progressive neurodegeneration, and bone sclerotic features. The age at onset ranges from infancy to early adulthood. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Brain malformations with or without urinary tract defects.","acronym":"BRMUTD.","accession":"DI-04979","synonyms":null,"cross_references":"MeSH; D007674.","definition":"A syndrome characterized by corpus callosum hypoplasia or agenesis, hydrocephalus or ventricular enlargement, developmental delay, and urinary tract defects. ","keywords":null},{"identifier":"Brugada syndrome 1.","acronym":"BRGDA1.","accession":"DI-00202","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 dominant, 34, with or without inflammation.","acronym":"DFNA34.","accession":"DI-05146","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of 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. DFNA34 is a postlingual, slowly progressive form with variable severity and variable additional features. Some DFNA34 patients have autoinflammatory manifestations. ","keywords":"KW-1010:Non-syndromic deafness.; "}]}