osteogenesis imperfecta

osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results in brittle bones and defective connective tissue
rdfs:label
"osteogenesis imperfecta"@en
skos:altLabel
"Lobstein's syndrome"@en
"OI"@en
"Vrolik's disease"@en
"brittle bone disease"@en
"fragilitas ossium"@en
"osteopsathyrosis"@en
"osteopsathyrosis idiopathica"@en
schema:description
"osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results in brittle bones and defective connective tissue"@en
schema:dateModified "2026-10-24T00:30:00+00:00"^^xsd:dateTime
schema:version 2560166346
wikibase:identifiers 45
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wikibase:sitelinks 44
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p:direct-normalized/P1617 <http://www.bbc.co.uk/things/50072515-5e41-45ab-bd09-2300b8b0aafd#id>
p:direct-normalized/P2347 <http://www.yso.fi/onto/yso/p20558>
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D010013>
p:direct-normalized/P508 <http://purl.org/bncf/tid/21888>
p:direct-normalized/P6366 <https://makg.org/entity/2777668750>
<https://makg.org/entity/2909499170>
<https://makg.org/entity/2909773098>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H00506>
p:direct-normalized/P672 <http://id.nlm.nih.gov/mesh/C05.116.099.708.685>
<http://id.nlm.nih.gov/mesh/C16.320.737>
<http://id.nlm.nih.gov/mesh/C17.300.200.540>
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wdt:P10283 "C2777668750"
wdt:P1036 "571.948"
wdt:P11143 "Osteogenesis imperfecta"
wdt:P1193 0.0003^^xsd:decimal
wdt:P12086 "Osteogenesis_imperfecta"
wdt:P12800 "fr:Maladie_des_os_de_verre"
wdt:P1325 <http://www.nanbyou.or.jp/entry/4567>
wdt:P1343 The Unified Medical Dictionary (Librairie du Liban, 2009)
wdt:P1417 "science/osteogenesis-imperfecta"
wdt:P1461 "osteogenesis-imperfecta"
wdt:P14914 "D00666"
wdt:P1550 "666"
wdt:P1617 "50072515-5e41-45ab-bd09-2300b8b0aafd"
wdt:P1692 "756.51"
wdt:P1748 "C26837"
"C99003"
wdt:P18 <http://commons.wikimedia.org/wiki/Special:FilePath/XrayOITypeV-Audult.jpg>
wdt:P1995 medical genetics
wdt:P2293 IFITM5
COL1A1
BMP1
SPARC
SERPINH1
CRTAP
COL1A2
LRP5
P4HB
SERPINF1
PLOD2
PLS3
PPIB
PYCR1
SLC34A1
WNT1
EBP50
SEC24D
KDELR2
POLR3A
B4GALT7
DKK1
MESD
PHLDB1
ATP6V0A2
NBAS
TMEM38B
TENT5A
FKBP10
XYLT2
IFIH1
P3H1
CCDC134
WNT3A
CREB3L1
GORAB
SGMS2
ANO5
SP7
Membrane-bound transcription factor peptidase, site 2
RIG1
wdt:P2347 "20558"
wdt:P279 osteochondrodysplasia
wdt:P2841 any age
wdt:P2888 <http://identifiers.org/doid/DOID:12347>
<http://purl.obolibrary.org/obo/DOID_12347>
<http://www.orpha.net/ORDO/Orphanet_666>
wdt:P2892 "C0023931"
"C0029434"
wdt:P31 type of disease
designated intractable/rare disease
rare disease
wdt:P3222 "osteogenesis-imperfecta"
wdt:P3417 "Osteogenesis-Imperfecta"
wdt:P3471 "3829"
wdt:P3553 "19828949"
wdt:P373 "Osteogenesis imperfecta"
wdt:P3827 "osteogenesis-imperfecta"
wdt:P4229 "Q78.0"
wdt:P4233 "osteogenesis-imperfecta"
wdt:P4317 "1017"
wdt:P4839 "Entity["Disease", {"ICDNine756.51", "Primary"}]"
wdt:P486 "D010013"
wdt:P492 "166200"
wdt:P493 "756.51756.51"
wdt:P494 "Q78.078.0"
wdt:P5008 WikiProject Medicine
wdt:P508 "21888"
wdt:P557 "866596"
wdt:P604 "001573"
wdt:P6366 "2777668750"
"2909499170"
"2909773098"
wdt:P646 "/m/03m7vl"
wdt:P6532 pathologic nystagmus
wdt:P665 "H00506"
wdt:P672 "C05.116.099.708.685"
"C16.320.737"
"C17.300.200.540"
wdt:P691 "ph943941"
wdt:P699 "DOID:12347"
wdt:P7329 "LD24.K0"
wdt:P7464 "osteogenesis-imperfecta"
wdt:P7807 "1219932551"
wdt:P8072 "68362"
wdt:P8189 "987007553341805171"
wdt:P9272 "10192"
wdt:P950 "XX553344"
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