{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6140&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6100&ordering=-identifier","results":[{"identifier":"Bjoernstad syndrome.","acronym":"BJS.","accession":"DI-01285","synonyms":"Bjornstad syndrome.; Pili torti and nerve deafness.; PTD.; ","cross_references":"MeSH; D006319.","definition":"An autosomal recessive disease characterized by congenital sensorineural hearing loss and twisted hairs (pili torti). Pili torti is a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair extremely brittle. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Birt-Hogg-Dube syndrome 2.","acronym":"BHD2.","accession":"DI-06731","synonyms":null,"cross_references":"MeSH; D058249.","definition":"A form of Birt-Hogg-Dube syndrome, a rare genodermatosis usually manifesting in adulthood and characterized by multiple fibrofolliculomas, trichodiscomas, and acrochordons. Patients with this syndrome have an increased susceptibility to develop renal cell carcinoma, lung cysts, and spontaneous pneumothorax. BHD2 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Birt-Hogg-Dube syndrome 1.","acronym":"BHD1.","accession":"DI-00190","synonyms":"Fibrofolliculomas with trichodiscomas and acrochordons.; Hornstein-Knickenberg syndrome.; ","cross_references":"MeSH; D058249.","definition":"A form of Birt-Hogg-Dube syndrome, a rare genodermatosis usually manifesting in adulthood and characterized by multiple fibrofolliculomas, trichodiscomas, and acrochordons. Patients with this syndrome have an increased susceptibility to develop renal cell carcinoma, lung cysts, and spontaneous pneumothorax. Inheritance is autosomal dominant. ","keywords":null},{"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},{"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-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":"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":"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":"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":"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":"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 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":"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":"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":"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":"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":"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":"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 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 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.; "}]}