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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5080",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5040",
"results": [
{
"identifier": "Osteogenesis imperfecta 5.",
"acronym": "OI5.",
"accession": "DI-03563",
"synonyms": "OI type V.; OI-V.; Osteogenesis imperfecta type V.; ",
"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. OI5 patients manifest moderate to severe bone fragility, calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation. ",
"keywords": "KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenesis imperfecta 6.",
"acronym": "OI6.",
"accession": "DI-02725",
"synonyms": "OI type VI.; OI-VI.; Osteogenesis imperfecta type VI.; ",
"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. OI6 is a severe, autosomal recessive form compatible with OI type III in the Sillence classification. ",
"keywords": "KW-0242:Dwarfism.; KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenesis imperfecta 7.",
"acronym": "OI7.",
"accession": "DI-02104",
"synonyms": "OI2B.; OI-IIB.; OI type IIB.; OI type VII.; OI-VII.; Osteogenesis imperfecta perinatal lethal autosomal recessive.; Osteogenesis imperfecta type II autosomal recessive.; Osteogenesis imperfecta type IIB.; Osteogenesis imperfecta type VII.; ",
"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. OI7 is an autosomal recessive, severe form. Multiple fractures are present at birth and patients have short stature, short humeri and femora, coxa vara, and white sclera. Dentinogenesis imperfecta is absent. Death can occur in the perinatal period due to secondary respiratory insufficiency. ",
"keywords": "KW-0242:Dwarfism.; KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenesis imperfecta 8.",
"acronym": "OI8.",
"accession": "DI-02105",
"synonyms": "OI type VIII.; OI-VIII.; Osteogenesis imperfecta type VIII.; ",
"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. OI8 is characterized by disproportionate short stature, shortening of the long bones, white sclerae, a round face and a short barrel-shaped chest. ",
"keywords": "KW-0242:Dwarfism.; KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenesis imperfecta 9.",
"acronym": "OI9.",
"accession": "DI-02542",
"synonyms": "OI-IX.; OI type IX.; Osteogenesis imperfecta Sillence type II/III without abnormality of type I collagen.; Osteogenesis imperfecta type IX.; ",
"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. OI9 is a severe autosomal recessive form of the disorder. ",
"keywords": "KW-0242:Dwarfism.; KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenic sarcoma.",
"acronym": "OSRC.",
"accession": "DI-02109",
"synonyms": "Osteosarcoma.; ",
"cross_references": "MeSH; D012516.",
"definition": "A sarcoma originating in bone-forming cells, affecting the ends of long bones. ",
"keywords": null
},
{
"identifier": "Osteoglophonic dysplasia.",
"acronym": "OGD.",
"accession": "DI-02110",
"synonyms": "Osteoglophonic dwarfism.; ",
"cross_references": "MedGen; C0432283.",
"definition": "Characterized by craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge, as well as by rhizomelic dwarfism and nonossifying bone lesions. Inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Osteootohepatoenteric syndrome.",
"acronym": "OOHE.",
"accession": "DI-06143",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "An autosomal recessive disorder characterized by cholestasis, congenital diarrhea, impaired hearing, and bone fragility. Some patients also display mild developmental delay and intellectual disability. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Osteopathia striata with cranial sclerosis.",
"acronym": "OSCS.",
"accession": "DI-02547",
"synonyms": "Hyperostosis generalisata with striations.; Robinow-Unger syndrome.; ",
"cross_references": "MeSH; D010026.",
"definition": "An X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, facial palsy, conductive hearing loss, mild learning disabilities, sclerosis of the long bones and skull. Longitudinal striations are visible on radiographs of the long bones, pelvis, and scapulae (osteopathia striata). In males this entity is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations. ",
"keywords": null
},
{
"identifier": "Osteopetrosis, autosomal dominant 1.",
"acronym": "OPTA1.",
"accession": "DI-00884",
"synonyms": null,
"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. OPTA1 is an autosomal dominant form characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate. ",
"keywords": "KW-0987:Osteopetrosis.; "
},
{
"identifier": "Osteopetrosis, autosomal dominant 2.",
"acronym": "OPTA2.",
"accession": "DI-00885",
"synonyms": "Autosomal dominant Albers-Schonberg disease.; Marble disease autosomal dominant.; ",
"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. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base. ",
"keywords": "KW-0987:Osteopetrosis.; "
},
{
"identifier": "Osteopetrosis, autosomal dominant 3.",
"acronym": "OPTA3.",
"accession": "DI-05323",
"synonyms": null,
"cross_references": "MeSH; D010022.",
"definition": "A form of osteopetrosis, 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 an autosomal dominant form occurring in adolescence or adulthood. OPTA3 is characterized by typical features of osteopetrosis such as fractures after minor trauma, early tooth loss, anemia, hepatosplenomegaly, and a generalized increase in bone mineral density. Some patients exhibit localized osteosclerosis and generalized osteopenia. ",
"keywords": "KW-0987:Osteopetrosis.; "
},
{
"identifier": "Osteopetrosis, autosomal recessive 1.",
"acronym": "OPTB1.",
"accession": "DI-00886",
"synonyms": "Autosomal recessive Albers-Schonberg disease.; Infantile malignant 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. ",
"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": "Osteopetrosis, autosomal recessive 3.",
"acronym": "OPTB3.",
"accession": "DI-01252",
"synonyms": "Carbonic anhydrase II deficiency syndrome.; Guibaud-Vainsel syndrome.; Marble brain disease.; Osteopetrosis with renal tubular acidosis.; ",
"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. OPTB3 is associated with renal tubular acidosis, cerebral calcification (marble brain disease) and in some cases with intellectual disability. ",
"keywords": "KW-0987:Osteopetrosis.; "
},
{
"identifier": "Osteopetrosis, autosomal recessive 4.",
"acronym": "OPTB4.",
"accession": "DI-00888",
"synonyms": "Infantile malignant osteopetrosis 2.; ",
"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. ",
"keywords": "KW-0987:Osteopetrosis.; "
},
{
"identifier": "Osteopetrosis, autosomal recessive 5.",
"acronym": "OPTB5.",
"accession": "DI-00889",
"synonyms": "Infantile malignant osteopetrosis 3.; ",
"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. OPTB5 patients manifest primary central nervous system involvement in addition to the classical stigmata of severe bone sclerosis, growth failure, anemia, thrombocytopenia and visual impairment with optic atrophy. ",
"keywords": "KW-0987:Osteopetrosis.; "
},
{
"identifier": "Osteopetrosis, autosomal recessive 6.",
"acronym": "OPTB6.",
"accession": "DI-01253",
"synonyms": "Autosomal recessive osteopetrosis intermediate form.; ",
"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. ",
"keywords": "KW-0987:Osteopetrosis.; "
},
{
"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 8.",
"acronym": "OPTB8.",
"accession": "DI-03656",
"synonyms": null,
"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. OPTB8 is clinically characterized by dense bones with no distinction between outer and inner plates, due to extensive encroachment of cortical bone into the medullary space, increased head circumference, broad open fontanelle, frontal bossing, and hepatosplenomegaly. Osteoclasts number is low and their bone resorptive capacity is impaired. ",
"keywords": "KW-0987:Osteopetrosis.; "
}
]
}