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OI
MCID: OST005
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Osteogenesis Imperfecta malady |
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2 drugs, 52 genes, 7 tissues, 350 related diseases, 9 phenotypes, 297 articles, clinical trials, genetic tests.
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Sources: 6Disease Ontology, 17Genetics Home Reference, 30NIH Rare Diseases, 23MedlinePlus, 44Wikipedia, 22MalaCards See all sources Export this MalaCard |
MedlinePlus: Osteogenesis imperfecta (oi) is a genetic disorder in which bones break easily. sometimes the bones break for no known reason. oi can also cause weak muscles, brittle teeth, a curved spine and hearing loss. the cause is a gene defect that affects how you make collagen, a protein that helps make bones strong. usually you inherit the faulty gene from a parent. sometimes, it is due to a mutation, a random gene change.
oi can range from mild to severe and symptoms vary from person to person. a person may have just a few or as many as several hundred fractures in a lifetime. there is no cure, but you can manage symptoms. treatments include exercise, pain medicine, physical therapy, wheelchairs, braces and surgery.
nih: national institute of arthritis and musculoskeletal and skin diseases23
MalaCards: Osteogenesis Imperfecta, also known as brittle bone disease, is related to osteogenesis imperfecta type i and osteogenesis imperfecta type iii. An important gene associated with Osteogenesis Imperfecta is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Platelet Aggregation Inhibitor Pathway, Pharmacodynamics and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. The drugs calcitonin,salmon and calcitonin and the compounds Collagenase and tartrate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, thyroid and breast, and related mouse phenotypes are respiratory system and craniofacial. Disease Ontology: An osteochondrodysplasia that has material basis in a deficiency in type-i collagen which results in brittle bones and defective connective tissue.6 Genetics Home Reference: Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.17 NIH Rare Diseases: Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime. There are at least eight recognized forms of osteogenesis imperfecta, designated type I through type VIII. The types can be distinguished by their signs and symptoms, as well as by genetic factors. Depending on the genetic cause, OI may be inherited in an autosomal dominant (more commonly) or autosomal recessive pattern.30 Wikipedia: Osteogenesis imperfecta (OI and sometimes known as brittle bone disease, or \"Lobstein syndrome\") is a...44 more... |
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Sources: 6Disease Ontology, 7diseasecard, 44Wikipedia, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 8DISEASES, 32Novoseek , 23MedlinePlus, 43UMLS, 33OMIM, 40SNOMED-CT, 24MeSH See all sources |
Aliases & Descriptions:
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for osteogenesis imperfecta Drug clinical trials:Search ClinicalTrials for osteogenesis imperfecta Search NIH Clinical Center for osteogenesis imperfecta Search CenterWatch for osteogenesis imperfecta Inferred drug relations via UMLS/NDF-RT:43 28 calcitonin, calcitonin,salmon |
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Sources: 16GeneTests See all sources |
Genetic tests related to osteogenesis imperfecta:
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to osteogenesis imperfecta:22Bone marrow, Thyroid, Breast, Skin, T cells, B cells, Fetal thyroid
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to osteogenesis imperfecta:25
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Sources: 35PubMed See all sources |
Articles related to osteogenesis imperfecta:(show top 50) (show all 297)
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Sources: 1BioGPS See all sources |
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Sources: 34PharmGKB, 41Thomson Reuters, 10EMD Millipore, 36QIAGEN, 20KEGG, 38Reactome See all sources |
Pathways related to osteogenesis imperfecta according to GeneDecks:(show top 50) (show all 54)
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Sources: 9DrugBank, 32Novoseek , 18HMDB, 42Tocris Bioscience, 34PharmGKB See all sources |
Compounds related to osteogenesis imperfecta according to GeneDecks:(show top 50) (show all 136)
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Sources: 12Gene Ontology See all sources |
Cellular components related to osteogenesis imperfecta according to GeneDecks:
Biological processes related to osteogenesis imperfecta according to GeneDecks:(show all 18)
Molecular functions related to osteogenesis imperfecta according to GeneDecks:
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