{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3660&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3620&ordering=-synonyms","results":[{"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 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 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 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 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":"Microcephalic osteodysplastic primordial dwarfism 2.","acronym":"MOPD2.","accession":"DI-01976","synonyms":"Osteodysplastic primordial dwarfism type 2.; ","cross_references":"MedGen; C1859451.","definition":"Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence. ","keywords":null},{"identifier":"Osteopetrosis, autosomal recessive 7.","acronym":"OPTB7.","accession":"DI-00890","synonyms":"Osteoclast-poor osteopetrosis with hypogammaglobulinemia.; ","cross_references":"MeSH; D010022.","definition":"A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB7 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development. OPTB7 is associated with hypogammaglobulinemia. ","keywords":"KW-0987:Osteopetrosis.; "},{"identifier":"Osteopetrosis, autosomal recessive 2.","acronym":"OPTB2.","accession":"DI-00887","synonyms":"Osteoclast-poor osteopetrosis.; ","cross_references":"MeSH; D010022.","definition":"A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB2 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development. ","keywords":"KW-0987:Osteopetrosis.; "},{"identifier":"Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans.","acronym":"SSOAOD.","accession":"DI-02814","synonyms":"Osteochondritis dissecans, short stature, and early-onset osteoarthritis.; ","cross_references":"MeSH; D010008.","definition":"An autosomal dominant disease characterized by short stature, advanced bone maturation, early-onset osteoarthritis, and mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disk disease and osteochondritis dissecans. Osteochondritis dissecans is defined as a separation of cartilage and subchondral bone from the surrounding tissue. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Osteoarthritis 3.","acronym":"OS3.","accession":"DI-02643","synonyms":"Osteoarthritis of knee/hip.; ","cross_references":"MeSH; D010003.","definition":"A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. ","keywords":null},{"identifier":"Osteoarthritis 5.","acronym":"OS5.","accession":"DI-02644","synonyms":"Osteoarthritis of hip.; ","cross_references":"MeSH; D010003.","definition":"A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. ","keywords":null},{"identifier":"Paget disease of bone 3.","acronym":"PDB3.","accession":"DI-04539","synonyms":"Osteitis Deformans.; ","cross_references":"MeSH; D010001.","definition":"A disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. ","keywords":null},{"identifier":"Primrose syndrome.","acronym":"PRIMS.","accession":"DI-04154","synonyms":"Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes.; ","cross_references":"MeSH; D009133.","definition":"A disease characterized by macrocephaly, intellectual disability, disturbed behavior, dysmorphic facial features, ectopic calcifications, large calcified ear auricles, and progressive muscle wasting. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Polycythemia vera.","acronym":"PV.","accession":"DI-02712","synonyms":"Osler-Vaquez disease.; Polycythemia rubra vera.; PRV.; ","cross_references":"MeSH; D011087.","definition":"A myeloproliferative disorder characterized by abnormal proliferation of all hematopoietic bone marrow elements, erythroid hyperplasia, an absolute increase in total blood volume, but also by myeloid leukocytosis, thrombocytosis and splenomegaly. ","keywords":null},{"identifier":"Orofaciodigital syndrome 20.","acronym":"OFD20.","accession":"DI-06848","synonyms":"Orofaciodigital syndrome XX.; ","cross_references":"MeSH; D009958.","definition":"A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD20 is an autosomal recessive form characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Autoinflammation, panniculitis, and dermatosis syndrome.","acronym":"AIPDS.","accession":"DI-04791","synonyms":"ORAS.; Otulin-related autoinflammatory syndrome.; Otulipenia.; ","cross_references":"MeSH; D056660.","definition":"An autosomal recessive autoinflammatory disorder characterized by neonatal-onset of fever, neutrophilic dermatitis, panniculitis, painful joints, failure to thrive. Patients do not exhibit overt primary immunodeficiency. ","keywords":null},{"identifier":"Dominant optic atrophy plus syndrome.","acronym":"DOA+.","accession":"DI-02096","synonyms":"Optic atrophy with or without deafness ophthalmoplegia myopathy ataxia and neuropathy.; ","cross_references":"MeSH; D029241.","definition":"A neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes. ","keywords":null},{"identifier":"Optic atrophy 7 with or without auditory neuropathy.","acronym":"OPA7.","accession":"DI-02531","synonyms":"Optic atrophy 7.; ","cross_references":"MeSH; D015418.","definition":"A hereditary condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma. Some patients manifest hearing loss. ","keywords":null},{"identifier":"Osteoporosis-pseudoglioma syndrome.","acronym":"OPPG.","accession":"DI-02111","synonyms":"OPS.; Osteogenesis imperfecta ocular form.; ","cross_references":"MeSH; D010013.","definition":"A disease characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, intellectual disability and hypotonia. ","keywords":"KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Orotic aciduria 1.","acronym":"ORAC1.","accession":"DI-01730","synonyms":"OPRT and ODC deficiency.; Orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency.; Orotic aciduria.; Oroticaciduria 1.; Orotic aciduria I.; Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency.; UMPS deficiency.; UMP synthase deficiency.; Uridine monophosphate synthase deficiency.; ","cross_references":"MeSH; D011686.","definition":"A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and intellectual disability. A minority of cases have additional features, particularly congenital malformations and immune deficiencies. ","keywords":null}]}