{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1360&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1320&ordering=-synonyms","results":[{"identifier":"Congenital contractures of the limbs and face, hypotonia, and developmental delay.","acronym":"CLIFAHDD.","accession":"DI-04355","synonyms":null,"cross_references":"MeSH; D001176.","definition":"A disease characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, abnormal tone, most commonly manifested as hypotonia, and variable degrees of developmental delay. ","keywords":null},{"identifier":"Corneal dystrophy, posterior polymorphous, 2.","acronym":"PPCD2.","accession":"DI-02185","synonyms":null,"cross_references":"MeSH; D003317.","definition":"A rare mild subtype of posterior corneal dystrophy characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic. ","keywords":"KW-1212:Corneal dystrophy.; "},{"identifier":"Congenital disorder of deglycosylation 2.","acronym":"CDDG2.","accession":"DI-06360","synonyms":null,"cross_references":"MeSH; D002239.","definition":"An autosomal recessive disorder characterized by facial dysmorphism, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis. ","keywords":null},{"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":"Diabetes mellitus, ketosis-prone.","acronym":"KPD.","accession":"DI-02784","synonyms":null,"cross_references":"MeSH; D003920.","definition":"An atypical form of diabetes mellitus characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Congenital disorder of glycosylation 1BB.","acronym":"CDG1BB.","accession":"DI-05282","synonyms":null,"cross_references":"MeSH; D018981.","definition":"A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1BB inheritance is autosomal recessive. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"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":"Dominantly inherited venous malformations.","acronym":"VMCM.","accession":"DI-01500","synonyms":null,"cross_references":"MedGen; C1838437.","definition":"An error of vascular morphogenesis characterized by dilated, serpiginous channels. ","keywords":null},{"identifier":"Developmental and epileptic encephalopathy 110.","acronym":"DEE110.","accession":"DI-06558","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. DEE110 is an autosomal recessive form characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Congenital disorder of glycosylation 1E.","acronym":"CDG1E.","accession":"DI-00337","synonyms":null,"cross_references":"MeSH; D018981.","definition":"A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Some CDG1E patients have features consistent with a dystroglycanopathy and congenital muscular dystrophy, including O-mannosylation defect, camptodactyly, elevated creatine kinase, motor delay and dystrophic changes on muscel biopsy. ","keywords":"KW-0900:Congenital disorder of glycosylation.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"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":"Deafness, autosomal recessive, 84B.","acronym":"DFNB84B.","accession":"DI-03565","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by congenital, non- progressive, sensorineural, symmetric hearing loss. Vestibular hypofunction is rarely observed. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"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":"Aortic aneurysm, familial thoracic 12.","acronym":"AAT12.","accession":"DI-06389","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. AAT12 is an autosomal dominant disease manifesting with aortic dissection and progressive dilation of the aortic root, ascending aorta, and abdominal aorta. ","keywords":"KW-0993:Aortic aneurysm.; "},{"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":"Developmental and epileptic encephalopathy 102.","acronym":"DEE102.","accession":"DI-06430","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. DEE102 is an autosomal recessive form characterized by onset of variable types of seizures in infancy. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Congenital heart defects, multiple types, 4.","acronym":"CHTD4.","accession":"DI-04085","synonyms":null,"cross_references":"MeSH; D006330.","definition":"A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. ","keywords":null},{"identifier":"Immunodeficiency, common variable, 14.","acronym":"CVID14.","accession":"DI-05140","synonyms":null,"cross_references":"MeSH; D017074.","definition":"A primary immunodeficiency resulting in recurrent sinopulmonary infections since early childhood, and characterized by hypogammaglobulinemia with undetectable IgG and IgA, poor response to vaccination, and decreased levels of switched memory B cells. CVID14 inheritance is autosomal dominant. ","keywords":null}]}