{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=600","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=560","results":[{"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":"Beta-ureidopropionase deficiency.","acronym":"UPB1D.","accession":"DI-01276","synonyms":null,"cross_references":"MeSH; D011686.","definition":"An inborn error of metabolism due to a defect in pyrimidine degradation. It is characterized by muscular hypotonia, dystonic movements, scoliosis, microcephaly and severe developmental delay. Patients show strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine. ","keywords":null},{"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":"Bethlem myopathy 1B.","acronym":"BTHLM1B.","accession":"DI-06833","synonyms":null,"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":"Bethlem myopathy 1C.","acronym":"BTHLM1C.","accession":"DI-06834","synonyms":null,"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. BTHLM1C inheritance is autosomal dominant. ","keywords":"KW-0912:Congenital muscular dystrophy.; "},{"identifier":"Bethlem myopathy 2.","acronym":"BTHLM2.","accession":"DI-04487","synonyms":"EDS, myopathic.; EDSMYP.; Ehlers-Danlos syndrome, myopathic.; ","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. BTHLM2 inheritance is autosomal dominant. ","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":"Bietti crystalline corneoretinal dystrophy.","acronym":"BCD.","accession":"DI-01280","synonyms":"Bietti crystalline dystrophy.; Bietti tapetoretinal degeneration with marginal corneal dystrophy.; Crystalline retinopathy.; ","cross_references":"MeSH; D012164.","definition":"An autosomal recessive ocular disease characterized by retinal degeneration and marginal corneal dystrophy. Typical features include multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most patients have similar crystals at the corneoscleral limbus. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, they develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life. ","keywords":"KW-1212:Corneal dystrophy.; "},{"identifier":"Bifid nose, with or without anorectal and renal anomalies.","acronym":"BNAR.","accession":"DI-02627","synonyms":"Bifid nose renal agenesis and anorectal malformations syndrome.; ","cross_references":"MeSH; D009668.","definition":"A disease characterized by the presence of a bifid nose usually associated with renal agenesis and anorectal malformations. A bifid nose is a congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation. ","keywords":null},{"identifier":"Bilateral optic nerve hypoplasia.","acronym":"BONH.","accession":"DI-01282","synonyms":"Bilateral optic nerve aplasia.; ","cross_references":"MeSH; D000013.","definition":"A congenital anomaly in which the optic disk appears abnormally small. It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the pituitary. ","keywords":null},{"identifier":"Bile acid conjugation defect 1.","acronym":"BACD1.","accession":"DI-06059","synonyms":null,"cross_references":"MeSH; D008661.","definition":"An autosomal recessive metabolic disorder characterized by reduced biliary secretion of conjugated bile acids, fat malabsorption, and fat-soluble vitamin deficiency. Clinical manifestations include rickets with variable growth failure due to vitamin D deficiency, and coagulopathy due to deficiency of vitamin K-dependent clotting factors. Additional variable features include pruritis, anemia, hepatomegaly, and bile duct proliferation on liver biopsy. Laboratory studies show abnormally increased levels of unconjugated bile acids. ","keywords":null},{"identifier":"Bile acid malabsorption, primary, 1.","acronym":"PBAM1.","accession":"DI-02198","synonyms":null,"cross_references":"MeSH; D045602.","definition":"An autosomal recessive intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, steatorrhea and interruption of the enterohepatic circulation of bile acids. ","keywords":null},{"identifier":"Bile acid malabsorption, primary, 2.","acronym":"PBAM2.","accession":"DI-06199","synonyms":null,"cross_references":"MeSH; D008286.","definition":"An autosomal recessive disorder characterized by chronic diarrhea, severe fat-soluble vitamin deficiency, and features of cholestatic liver disease. ","keywords":null},{"identifier":"Biliary, renal, neurologic, and skeletal syndrome.","acronym":"BRENS.","accession":"DI-06257","synonyms":"BRENS syndrome.; ","cross_references":"MeSH; D000072661.","definition":"An autosomal recessive ciliopathy with multisystemic manifestations including severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis, postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Biotinidase deficiency.","acronym":"BTD deficiency.","accession":"DI-00189","synonyms":"Late-onset MCD.; Late-onset multiple carboxylase deficiency.; MCD juvenile form.; Multiple carboxylase deficiency, juvenile-onset.; Multiple carboxylase deficiency, late-onset.; ","cross_references":"MeSH; D028921.","definition":"A juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur. ","keywords":null},{"identifier":"Birbeck granule deficiency.","acronym":"BIRGD.","accession":"DI-02857","synonyms":"Absence of Birbeck granules.; ","cross_references":"MedGen; C3150657.","definition":"A condition characterized by the absence of Birbeck granules in epidermal Langerhans cells. Despite the lack of Birbeck granules, Langerhans cells are present in normal numbers and have normal morphologic characteristics and antigen-presenting capacity. ","keywords":null},{"identifier":"Birk-Aharoni syndrome.","acronym":"BKAH.","accession":"DI-06522","synonyms":"NEDGTH.; Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss.; ","cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by failure to thrive, severe developmental delay, intellectual disability, spastic tetraplegia with central hypotonia, chorea, hearing loss, micropenis and undescended testes, as well as mild elevation of liver enzymes. ","keywords":"KW-0209:Deafness.; KW-0991:Intellectual disability.; "},{"identifier":"Birk-Barel syndrome.","acronym":"BIBARS.","accession":"DI-02513","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A syndrome characterized by intellectual disability, hypotonia, hyperactivity, and facial dysmorphism. BIBARS transmission pattern is consistent with autosomal dominant inheritance with paternal imprinting. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Birk-Landau-Perez syndrome.","acronym":"BILAPES.","accession":"DI-05046","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal recessive syndrome characterized by early-childhood onset of different combinations of intellectual disability, muscle weakness, camptocormia, oculomotor apraxia, and nephropathy. ","keywords":null}]}