{"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":"Lipodystrophy, congenital generalized, 3.","acronym":"CGL3.","accession":"DI-00356","synonyms":"Berardinelli-Seip congenital lipodystrophy type 3.; BSCL3.; ","cross_references":"MeSH; D052497.","definition":"A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and diabetes mellitus. CGL3 inheritance is autosomal recessive. ","keywords":"KW-0219:Diabetes mellitus.; KW-1022:Congenital generalized lipodystrophy.; "},{"identifier":"Lipodystrophy, congenital generalized, 4.","acronym":"CGL4.","accession":"DI-02767","synonyms":"Berardinelli-Seip congenital lipodystrophy type 4.; Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy.; ","cross_references":"MeSH; D052497.","definition":"A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and diabetes mellitus. CGL4 is characterized by the association of congenital generalized lipodystrophy with muscular dystrophy and cardiac anomalies. Inheritance is autosomal recessive. ","keywords":"KW-0219:Diabetes mellitus.; KW-1022:Congenital generalized lipodystrophy.; "},{"identifier":"Visceral myopathy 1.","acronym":"VSCM1.","accession":"DI-04078","synonyms":"Berdon syndrome.; Idiopathic intestinal pseudoobstruction.; Infantile visceral myopathy.; Megacystis-microcolon-intestinal hypoperistalsis syndrome.; Megaduodenum and/or megacystis.; MMIH.; ","cross_references":"MeSH; D007418.","definition":"An autosomal dominant form of myopathic pseudo-obstruction characterized by impaired function of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe abdominal pain, malnutrition, and even death. The disease shows inter- and intrafamilial variability. Most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and dependence on total parenteral nutrition and urinary catheterization. ","keywords":null},{"identifier":"Megacystis-microcolon-intestinal hypoperistalsis syndrome.","acronym":"MMIHS.","accession":"DI-05709","synonyms":"Berdon syndrome.; Visceral myopathy.; ","cross_references":"MeSH; D007418.","definition":"A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a congenital visceral myopathy primarily affecting females, and characterized by loss of smooth muscle contraction in the bladder and intestine. Affected individuals present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure. MMIHS inheritance is autosomal recessive. ","keywords":null},{"identifier":"Sarcoidosis 2.","acronym":"SS2.","accession":"DI-02732","synonyms":"Besnier-Boeck-Schaumann disease.; Boeck sarcoid.; Sarcoidosis.; ","cross_references":"MeSH; D012507.","definition":"An idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved. ","keywords":null},{"identifier":"Sarcoidosis 1.","acronym":"SS1.","accession":"DI-02731","synonyms":"Besnier-Boeck-Schaumann disease.; Boeck sarcoid.; Sarcoidosis.; ","cross_references":"MeSH; D012507.","definition":"An idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved. ","keywords":null},{"identifier":"Bestrophinopathy, autosomal recessive.","acronym":"ARB.","accession":"DI-00187","synonyms":"Bestrophinopathy.; Retinopathy Burgess-Black type.; ","cross_references":"MeSH; D012164.","definition":"A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies. ","keywords":null},{"identifier":"Macular dystrophy, vitelliform, 2.","acronym":"VMD2.","accession":"DI-01124","synonyms":"Best's macular dystrophy.; Best disease.; Best macular dystrophy.; Best vitelliform macular dystrophy.; Best vitelliform macular dystrophy, multifocal.; BMD.; Early-onset vitelliform macular dystrophy.; Juvenile-onset vitelliform macular dystrophy.; Macular degeneration, polymorphic vitelline.; VMD.; ","cross_references":"MeSH; D057826.","definition":"An autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg- yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss. ","keywords":null},{"identifier":"GM1-gangliosidosis 1.","acronym":"GM1G1.","accession":"DI-00532","synonyms":"Beta-galactosidase-1 deficiency.; Gangliosidosis generalized GM1 infantile type.; Gangliosidosis generalized GM1 type 1.; GLB1 deficiency.; GM1-gangliosidosis infantile.; ","cross_references":"MeSH; D016537.","definition":"An autosomal recessive lysosomal storage disease marked by the accumulation of GM1 gangliosides, glycoproteins and keratan sulfate primarily in neurons of the central nervous system. GM1-gangliosidosis type 1 is characterized by onset within the first three months of life, central nervous system degeneration, coarse facial features, hepatosplenomegaly, skeletal dysmorphology reminiscent of Hurler syndrome, and rapidly progressive psychomotor deterioration. Urinary oligosaccharide levels are high. It leads to death usually between the first and second year of life. ","keywords":"KW-0331:Gangliosidosis.; "},{"identifier":"Mucopolysaccharidosis 7.","acronym":"MPS7.","accession":"DI-00781","synonyms":"Beta-glucuronidase deficiency.; GUSB deficiency.; MPS VII.; Mucopolysaccharidosis type VII.; Sly syndrome.; ","cross_references":"MeSH; D016538.","definition":"A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS7 is an autosomal recessive form with a highly variable phenotype, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment. ","keywords":"KW-0510:Mucopolysaccharidosis.; "},{"identifier":"3-hydroxyisobutryl-CoA hydrolase deficiency.","acronym":"HIBCHD.","accession":"DI-01740","synonyms":"Beta-hydroxyisobutyryl CoA deacylase deficiency.; Deficiency of beta-hydroxyisobutyryl CoA deacylase.; HIBCH deficiency.; Methacrylic acid toxicity.; Methacrylic aciduria.; Valine metabolic defect.; ","cross_references":"MeSH; D000592.","definition":"An autosomal recessive inborn error of valine metabolism. It causes severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. ","keywords":null},{"identifier":"Mannosidosis, beta A, lysosomal.","acronym":"MANSB.","accession":"DI-01922","synonyms":"Beta-mannosidase deficiency.; Beta-mannosidosis.; Lysosomal beta-mannosidase deficiency.; ","cross_references":"MeSH; D044905.","definition":"An autosomal recessive lysosomal storage disease of glycoprotein catabolism. Clinical features are heterogeneous with a wide range of symptoms and age of onset. The disease is associated with a range of neurological involvement, including various degrees of intellectual disability in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy. Affected individuals have a profound reduction in beta A mannosidase activity in plasma, fibroblasts and leukocytes. ","keywords":null},{"identifier":"Neurodegeneration with brain iron accumulation 5.","acronym":"NBIA5.","accession":"DI-03757","synonyms":"Beta-propeller protein-associated neurodegeneration.; BPAN.; SENDA.; Static encephalopathy of childhood with neurodegeneration in adulthood.; ","cross_references":"MeSH; D019189.","definition":"A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA5 is characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Beta-thalassemia.","acronym":"B-THAL.","accession":"DI-01275","synonyms":"Beta thalassemia.; Cooley's anemia.; Erythroblastic anemia.; Mediterranean anemia.; Thalassemia major.; Thalassemia minor.; ","cross_references":"MeSH; D017086.","definition":"A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of beta-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. Absence of beta chain causes beta(0)-thalassemia, while reduced amounts of detectable beta globin causes beta(+)-thalassemia. In the severe forms of beta-thalassemia, the excess alpha globin chains accumulate in the developing erythroid precursors in the marrow. Their deposition leads to a vast increase in erythroid apoptosis that in turn causes ineffective erythropoiesis and severe microcytic hypochromic anemia. Clinically, beta-thalassemia is divided into thalassemia major which is transfusion dependent, thalassemia intermedia (of intermediate severity), and thalassemia minor that is asymptomatic. ","keywords":"KW-0360:Hereditary hemolytic anemia.; "},{"identifier":"Beta-thalassemia, dominant, inclusion body type.","acronym":"B-THALIB.","accession":"DI-01498","synonyms":"Beta thalassemia dominant inclusion body type.; Dyserythropoietic anemia congenital Irish or Weatherall type.; ","cross_references":"MeSH; D017086.","definition":"An autosomal dominant form of beta thalassemia characterized by moderate anemia, lifelong jaundice, cholelithiasis and splenomegaly, marked morphologic changes in the red cells, erythroid hyperplasia of the bone marrow with increased numbers of multinucleate red cell precursors, and the presence of large inclusion bodies in the normoblasts, both in the marrow and in the peripheral blood after splenectomy. ","keywords":"KW-1055:Congenital dyserythropoietic anemia.; "},{"identifier":"Bethlem myopathy 1A.","acronym":"BTHLM1A.","accession":"DI-00188","synonyms":"Bethlem myopathy.; LGMDD5.; Muscular dystrophy, benign congenital.; Muscular dystrophy, limb-girdle, autosomal dominant 5.; Myopathy, benign congenital, with contractures.; ","cross_references":"MeSH; D009136.","definition":"A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. Inheritance can be autosomal dominant or autosomal recessive. ","keywords":"KW-0912:Congenital muscular dystrophy.; "},{"identifier":"Beukes hip dysplasia.","acronym":"HDB.","accession":"DI-04544","synonyms":"Beukes familial hip dysplasia.; BFHD.; Hip dysplasia, Beukes type.; Premature degenerative osteoarthropathy.; ","cross_references":"MeSH; D010009.","definition":"A severe progressive degenerative osteoarthritis of the hip joint with underlying dysplasia confined to that region. Affected individuals are of normal stature and have no associated health problems. Inheritance is autosomal dominant. ","keywords":null},{"identifier":"Seizures, benign familial infantile, 6.","acronym":"BFIS6.","accession":"DI-05284","synonyms":"BFIC6.; Convulsions, benign familial infantile, 6.; ","cross_references":"MeSH; D020936.","definition":"A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS6 inheritance is autosomal dominant. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal).","acronym":"CDCBM14A.","accession":"DI-01281","synonyms":"BFPP.; Cerebellar ataxia with neuronal migration defect.; Polymicrogyria, bilateral frontoparietal.; ","cross_references":"MeSH; D054220.","definition":"An autosomal recessive disorder characterized by global developmental delay with impaired intellectual development, motor delay, poor speech, cerebellar and pyramidal signs, truncal ataxia, and early- onset seizures. Brain imaging shows bilateral frontoparietal polymicrogyria, a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is considered to be the result of postmigratory abnormal cortical organization. ","keywords":null},{"identifier":"Waisman syndrome.","acronym":"WSMN.","accession":"DI-04321","synonyms":"BGMR.; WSN.; ","cross_references":"MeSH; D010300.","definition":"A neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease. ","keywords":"KW-0907:Parkinson disease.; KW-0991:Intellectual disability.; "}]}