About: Osteogenesis imperfecta

An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results in brittle bones and defective connective tissue

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dbo:alias
  • Brittle bone disease, Lobstein syndrome,fragilitas ossium, Vrolik disease,osteopsathyrosis idiopathica (en)
dbo:description
  • Krankheit (de)
  • хвороба (uk)
  • choroba (cs)
  • malattia genetica (it)
  • perinnöllinen sairaus (fi)
  • trastorno congénito caracterizado por una fragilidad excesiva de las estructuras óseas (es)
  • osteohondrodisplazija, pri kateri so zaradi pomanjkanja kolagena tipa I kosti krhke in je okvarjeno vezivno tkivo (sl)
  • choroba genetyczna (pl)
  • doenza conxénita (gl)
  • doença genética (pt)
  • hezur-sistemaren garapenaren sortzetiko akatsa (eu)
  • מחלת עצמות (iw)
  • اضطرابات الجينية (ar)
  • ମନୁଷ୍ୟଙ୍କ ଏକ ରୋଗ (or)
  • osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results in brittle bones and defective connective tissue (en)
dbo:diseasesDB
  • 9342
dbo:eMedicineSubject
  • ped (en)
dbo:eMedicineTopic
  • 1674 (en)
dbo:icd10
  • Q78.0
dbo:icd9
  • 756.51
dbo:medlinePlus
  • 001573
dbo:orpha
  • 666
dbo:thumbnail
dbo:wikiPageExternalLink
dbo:wikiPageWikiLink
dbp:align
  • right (en)
dbp:alt
  • Left forearm (en)
  • Right femur (en)
  • Right forearm (en)
  • Spine, chest, and pelvis (en)
dbp:caption
  • dbr:Atticus_Shaffer
  • dbr:Peter_Radtke
  • dbr:Jordanne_Whiley
  • dbr:Theresia_Haidlmayr
  • The tip of a modern Fassier–Duval telescoping intramedullary rod, manufactured by Pega Medical for use in osteogenesis imperfecta. (en)
  • Nicolas de Malebranche is thought to be the first person to attempt to describe the clinical features of OI. (en)
  • The right femur and tibia of a 10-year-old girl immediately after her rodding surgery, which involved implantation of the same type of telescoping intramedullary rod photographed at left. Note the bone fragmentation, an important step in the procedure, clearly visible on the X-ray of the femur. (en)
  • Where Vrolik would describe what is now type II OI, in 1833 Dr. Jean Lobstein was the first to describe what is now called type I OI. (en)
  • Blue sclerae are a classic non-pathognomonic sign of osteogenesis imperfecta. (en)
  • Dr. Willem Vrolik coined the term "osteogenesis imperfecta" in 1849. (en)
dbp:causes
  • Genetic (en)
dbp:diagnosis
  • Based on symptoms, DNA testing (en)
dbp:direction
  • vertical (en)
  • horizontal (en)
dbp:diseasesdb
  • 9342 (xsd:integer)
dbp:duration
  • Long term (en)
dbp:emedicinesubj
  • ped (en)
dbp:emedicinetopic
  • 1674 (xsd:integer)
dbp:field
dbp:footer
  • Four X-rays of a 24-year-old American man , who had had more than one hundred bone fractures in his lifetime, and received a childhood clinical diagnosis of [[#Type IV (en)
  • X-rays of three people with OI type V: a newborn, a child, and an adult. Evident are somewhat deformed long bones with widened metaphyses. (en)
  • Osteogenesis imperfecta is highly variable, affecting all those above. (en)
dbp:frequency
  • 1 (xsd:integer)
dbp:header
  • Excerpts from [[# (en)
dbp:icd
  • 756.510000 (xsd:double)
  • (en)
  • Q78.0 (en)
dbp:image
  • X-ray of osteogenesis imperfecta type 5 in newborn - right leg.jpg (en)
  • Tip of a Fassier–Duval intramedullary rod manufactured by Pega Medical.png (en)
  • Willem Vrolik's specimen of an infant with osteogenesis imperfecta.jpg (en)
  • Two postoperative radiographs of a patient who underwent rodding surgery for osteogenesis imperfecta.png (en)
  • First appearance in print of «osteogenesis imperfecta» .jpg (en)
  • AtticusShafferHWOFMay2012.jpg (en)
  • Osteogenesis_imperfecta_X-ray__of_spine,_chest,_and_pelvis.png (en)
  • Jordanne Whiley Rio2016 cr.jpg (en)
  • Nicolas Malebranche.jpg (en)
  • Osteogenesis_imperfecta_X-ray__of_left_forearm.png (en)
  • Osteogenesis_imperfecta_X-ray__of_right_arm.png (en)
  • Osteogenesis_imperfecta_X-ray__of_right_femur.png (en)
  • Theresia Haidlmayr.jpg (en)
  • Vrolik, W..jpg (en)
  • XrayOITypeV-Audult.jpg (en)
  • XrayOITypeV-Kid.jpg (en)
  • Jean Georges Chrétien Frédéric Martin Lobstein .jpg (en)
  • Dr-Peter-Radtke-Schauspieler-in-Kafkas-Bericht-fuer-eine-Akademie-Copyright-Foto-Monica-Boirar-aka-Monica-Beurer.jpg (en)
dbp:imageGap
  • 10 (xsd:integer)
dbp:management
  • Healthy lifestyle , metal rods through the long bones (en)
dbp:medication
dbp:medlineplus
  • 1573 (xsd:integer)
dbp:name
  • Osteogenesis imperfecta (en)
dbp:onset
  • Birth (en)
dbp:onsetAlways
  • y (en)
dbp:orphanet
  • 666 (xsd:integer)
dbp:perrow
  • 1 (xsd:integer)
  • 2 (xsd:integer)
  • 3 (xsd:integer)
dbp:prevention
dbp:prognosis
  • Depends on the type (en)
dbp:symptoms
  • Bones that break easily, blue tinge to the sclera , short height, joint hypermobility, hearing loss (en)
dbp:synonyms
  • Brittle bone disease, Lobstein syndrome, fragilitas ossium, Vrolik disease, osteopsathyrosis idiopathica (en)
dbp:totalWidth
  • 250 (xsd:integer)
  • 300 (xsd:integer)
  • 313 (xsd:integer)
  • 383 (xsd:integer)
  • 400 (xsd:integer)
  • 500 (xsd:integer)
dbp:wikiPageUsesTemplate
dbp:wordnet_type
dct:subject
gold:hypernym
rdf:type
rdfs:label
  • Osteogenesis imperfecta (en)
  • Osteogenesis imperfecta (cs)
  • تكون العظم الناقص (ar)
  • Osteogènesi imperfecta (ca)
  • Osteogenesis imperfecta (de)
  • Ατελής οστεογένεση (el)
  • Osteogenesis imperfecta (eo)
  • Osteogenesi inperfektu (eu)
  • Osteogénesis imperfecta (es)
  • Siondróm cnámh briosc (ga)
  • Osteogenesi imperfetta (it)
  • Ostéogenèse imparfaite (fr)
  • Osteogenesis imperfecta (in)
  • 骨形成不全症 (ja)
  • 골형성부전증 (ko)
  • Osteogenesis imperfecta (nl)
  • Wrodzona łamliwość kości (pl)
  • Osteogénese imperfeita (pt)
  • Osteogenesis imperfecta (sv)
  • Несовершенный остеогенез (ru)
  • 成骨不全症 (zh)
rdfs:seeAlso
owl:sameAs
skos:closeMatch
prov:wasDerivedFrom
foaf:depiction
foaf:isPrimaryTopicOf
is dbo:differentialDiagnosis of
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