{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5060","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5020","results":[{"identifier":"Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type.","acronym":"OCLSBG.","accession":"DI-04702","synonyms":null,"cross_references":"MeSH; D010009.","definition":"An autosomal recessive, lethal syndrome characterized by severe hypomineralization of the entire skeleton, severe osteopenia, microcephaly, multiple intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Osteofibrous dysplasia.","acronym":"OSFD.","accession":"DI-04712","synonyms":"Bowing of tibia with pseudarthrosis and pectus excavatum.; OFD.; ","cross_references":"MeSH; D001848.","definition":"A congenital disorder of osteogenesis characterized by non-neoplastic, radiolucent lesions that affect the cortical bone immediately under the periosteum. It usually manifests as a painless swelling or anterior bowing of the long bones, most commonly the tibia and fibula. ","keywords":null},{"identifier":"Osteogenesis imperfecta 1.","acronym":"OI1.","accession":"DI-02106","synonyms":"OI, type I.; OI-I.; Osteogenesis imperfecta tarda.; Osteogenesis imperfecta type I.; Osteogenesis imperfecta with blue sclerae.; Osteopenic non-fracture syndrome.; ","cross_references":"MeSH; D010013.","definition":"An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by bone low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta. ","keywords":"KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Osteogenesis imperfecta 10.","acronym":"OI10.","accession":"DI-03068","synonyms":"OI type X.; OI-X.; Osteogenesis imperfecta type X.; ","cross_references":"MeSH; D010013.","definition":"A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI10 is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclerae. ","keywords":"KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Osteogenesis imperfecta 11.","acronym":"OI11.","accession":"DI-03069","synonyms":"OI type XI.; OI-XI.; Osteogenesis imperfecta type XI.; ","cross_references":"MeSH; D010013.","definition":"A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI11 is an autosomal recessive form. ","keywords":"KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Osteogenesis imperfecta 12.","acronym":"OI12.","accession":"DI-03173","synonyms":"OI type XII.; OI-XII.; Osteogenesis imperfecta Sillence type III.; Osteogenesis imperfecta type XII.; ","cross_references":"MeSH; D010013.","definition":"A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI12 is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and white sclerae. ","keywords":"KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Osteogenesis imperfecta 13.","acronym":"OI13.","accession":"DI-03557","synonyms":"OI type XIII.; OI-XIII.; Osteogenesis imperfecta type XIII.; ","cross_references":"MeSH; D010013.","definition":"An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI13 is characterized by normal teeth, faint blue sclerae, severe growth deficiency, severe bone deformity, and recurrent fractures affecting both upper and lower limbs. ","keywords":"KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Osteogenesis imperfecta 14.","acronym":"OI14.","accession":"DI-03686","synonyms":"OI type XIV.; OI-XIV.; Osteogenesis imperfecta type XIV.; ","cross_references":"MeSH; D010013.","definition":"An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI14 is characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years. ","keywords":"KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Osteogenesis imperfecta 15.","acronym":"OI15.","accession":"DI-03754","synonyms":"OI type XV.; OI-XV.; Osteogenesis imperfecta type XV.; ","cross_references":"MeSH; D010013.","definition":"An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI15 is characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclerae. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients. ","keywords":"KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Osteogenesis imperfecta 16.","acronym":"OI16.","accession":"DI-04377","synonyms":"Chromosome 11p11.2 deletion syndrome, 91.3-KB.; OI, type XVI.; ","cross_references":"MeSH; D010013.","definition":"An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI16 is a severe form. ","keywords":"KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Osteogenesis imperfecta 17.","acronym":"OI17.","accession":"DI-04503","synonyms":"Osteogenesis imperfecta, type XVII.; ","cross_references":"MeSH; D010013.","definition":"An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. ","keywords":"KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Osteogenesis imperfecta 18.","acronym":"OI18.","accession":"DI-05240","synonyms":"Osteogenesis imperfecta, type XVIII.; ","cross_references":"MeSH; D010013.","definition":"An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI18 is a severe form characterized by congenital bowing of the lower limb, wormian bones, blue sclerae, vertebral collapses and multiple fractures in the first years of life. ","keywords":"KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Osteogenesis imperfecta 19.","acronym":"OI19.","accession":"DI-05299","synonyms":"Osteogenesis imperfecta, type XIX.; ","cross_references":"MeSH; D010013.","definition":"An X-linked form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI19 is characterized by prenatal fractures, short stature, white sclerae, variable scoliosis and pectal deformity, striking tibial anterior angulation and generalized osteopenia. ","keywords":"KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Osteogenesis imperfecta 2.","acronym":"OI2.","accession":"DI-02107","synonyms":"OI, type II.; OIC.; OI-II.; OI-IIA.; OI type IIA.; Osteogenesis imperfecta congenita.; Osteogenesis imperfecta congenita perinatal lethal form.; Osteogenesis imperfecta type IIA.; Osteogenesis imperfecta type II autosomal dominant.; Vrolik type of osteogenesis imperfecta.; ","cross_references":"MeSH; D010013.","definition":"An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI2 is characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency. ","keywords":"KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Osteogenesis imperfecta 20.","acronym":"OI20.","accession":"DI-05682","synonyms":"Osteogenesis imperfecta, type XX.; ","cross_references":"MeSH; D010013.","definition":"An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI20 is a progressive deforming form characterized by osteopenia, skeletal deformity, healed fractures, and newly-acquired fractures. Death due to respiratory failure can occur in some patients. ","keywords":"KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Osteogenesis imperfecta 21.","acronym":"OI21.","accession":"DI-05995","synonyms":"Osteogenesis imperfecta, type XXI.; ","cross_references":"MeSH; D010013.","definition":"An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI21 is a progressively deforming form characterized by multiple fractures appearing at birth or early childhood. ","keywords":"KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Osteogenesis imperfecta 22.","acronym":"OI22.","accession":"DI-06367","synonyms":"Osteogenesis imperfecta, type XXII.; ","cross_references":"MeSH; D010013.","definition":"An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI22 is a severe form of the disease. ","keywords":"KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Osteogenesis imperfecta 23.","acronym":"OI23.","accession":"DI-06799","synonyms":"Osteogenesis imperfecta, type XXIII.; ","cross_references":"MeSH; D010013.","definition":"An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI23 is a mild form characterized by osteopenia with or without recurrent fractures, platyspondyly, short and bowed long bones, and widened metaphyses. Platyspondyly and metaphyseal enlargement is present in infancy but resolve in middle childhood. ","keywords":"KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Osteogenesis imperfecta 3.","acronym":"OI3.","accession":"DI-02108","synonyms":"OI, type III.; OI-III.; Osteogenesis imperfecta type III.; Progressively deforming osteogenesis imperfecta with normal sclerae.; ","cross_references":"MeSH; D010013.","definition":"An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI3 is characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta. ","keywords":"KW-0242:Dwarfism.; KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Osteogenesis imperfecta 4.","acronym":"OI4.","accession":"DI-02103","synonyms":"OI, type IV.; OI-IV.; Osteogenesis imperfecta type IV.; Osteogenesis imperfecta with normal sclerae.; ","cross_references":"MeSH; D010013.","definition":"An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta. ","keywords":"KW-0242:Dwarfism.; KW-1065:Osteogenesis imperfecta.; "}]}