Medical Subject Headings

Last uploaded: August 27, 2019
Preferred Name

Osteogenesis Imperfecta

Synonyms

Lobstein Disease

Definitions

COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.

ID

http://purl.bioontology.org/ontology/MESH/D010013

altLabel

Lobstein Disease

Ossiums, Fragilitas

Osteogenesis Imperfecta, Type I

Osteogenesis Imperfecta with Blue Sclerae

Lobsteins Disease

Lobstein's Disease

Osteogenesis Imperfecta, Type 1

Fragilitas Ossium

Disease, Lobstein

Osteogenesis Imperfecta Tarda

Disease, Lobstein's

Brittle Bone Disease

Osteogenesis Imperfecta Tardas

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

cui

C0023931

C0029434

DC

1

definition

COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.

DX

19660101

FX

D003811

D024042

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469

Inverse of RO

http://purl.bioontology.org/ontology/MESH/D024042

http://purl.bioontology.org/ontology/MESH/D003811

Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D015785

http://purl.bioontology.org/ontology/MESH/D000745

http://purl.bioontology.org/ontology/MESH/D014898

http://purl.bioontology.org/ontology/MESH/D009394

http://purl.bioontology.org/ontology/MESH/D020294

http://purl.bioontology.org/ontology/MESH/D058631

http://purl.bioontology.org/ontology/MESH/D025861

http://purl.bioontology.org/ontology/MESH/D010004

http://purl.bioontology.org/ontology/MESH/D009958

http://purl.bioontology.org/ontology/MESH/D053306

http://purl.bioontology.org/ontology/MESH/D002806

http://purl.bioontology.org/ontology/MESH/D050174

http://purl.bioontology.org/ontology/MESH/D020083

http://purl.bioontology.org/ontology/MESH/D009386

http://purl.bioontology.org/ontology/MESH/D010381

http://purl.bioontology.org/ontology/MESH/D040181

http://purl.bioontology.org/ontology/MESH/D000072661

http://purl.bioontology.org/ontology/MESH/D031845

http://purl.bioontology.org/ontology/MESH/D001260

http://purl.bioontology.org/ontology/MESH/D050010

http://purl.bioontology.org/ontology/MESH/D010009

http://purl.bioontology.org/ontology/MESH/D020271

http://purl.bioontology.org/ontology/MESH/D016738

http://purl.bioontology.org/ontology/MESH/D009261

http://purl.bioontology.org/ontology/MESH/D004687

http://purl.bioontology.org/ontology/MESH/D065768

http://purl.bioontology.org/ontology/MESH/D000699

http://purl.bioontology.org/ontology/MESH/D006958

http://purl.bioontology.org/ontology/MESH/D009136

http://purl.bioontology.org/ontology/MESH/D000077428

http://purl.bioontology.org/ontology/MESH/D009800

http://purl.bioontology.org/ontology/MESH/D000130

http://purl.bioontology.org/ontology/MESH/D000071070

http://purl.bioontology.org/ontology/MESH/D002636

http://purl.bioontology.org/ontology/MESH/D056660

http://purl.bioontology.org/ontology/MESH/D056685

http://purl.bioontology.org/ontology/MESH/D054179

http://purl.bioontology.org/ontology/MESH/D012779

http://purl.bioontology.org/ontology/MESH/D056731

http://purl.bioontology.org/ontology/MESH/D017441

http://purl.bioontology.org/ontology/MESH/D046589

http://purl.bioontology.org/ontology/MESH/D007627

http://purl.bioontology.org/ontology/MESH/D053840

http://purl.bioontology.org/ontology/MESH/D025063

http://purl.bioontology.org/ontology/MESH/D058747

http://purl.bioontology.org/ontology/MESH/D056735

http://purl.bioontology.org/ontology/MESH/D008661

http://purl.bioontology.org/ontology/MESH/D052159

http://purl.bioontology.org/ontology/MESH/D006957

http://purl.bioontology.org/ontology/MESH/D003966

http://purl.bioontology.org/ontology/MESH/D029502

http://purl.bioontology.org/ontology/MESH/D007619

http://purl.bioontology.org/ontology/MESH/D057767

http://purl.bioontology.org/ontology/MESH/D049970

http://purl.bioontology.org/ontology/MESH/D004392

http://purl.bioontology.org/ontology/MESH/D006453

http://purl.bioontology.org/ontology/MESH/D017436

http://purl.bioontology.org/ontology/MESH/D002973

http://purl.bioontology.org/ontology/MESH/D005357

http://purl.bioontology.org/ontology/MESH/D016108

http://purl.bioontology.org/ontology/MESH/D024741

http://purl.bioontology.org/ontology/MESH/D056684

http://purl.bioontology.org/ontology/MESH/D003550

http://purl.bioontology.org/ontology/MESH/D019896

http://purl.bioontology.org/ontology/MESH/D015826

http://purl.bioontology.org/ontology/MESH/D060048

http://purl.bioontology.org/ontology/MESH/D055947

http://purl.bioontology.org/ontology/MESH/D012873

http://purl.bioontology.org/ontology/MESH/D004613

http://purl.bioontology.org/ontology/MESH/D010026

http://purl.bioontology.org/ontology/MESH/D004535

http://purl.bioontology.org/ontology/MESH/D000312

http://purl.bioontology.org/ontology/MESH/D008382

http://purl.bioontology.org/ontology/MESH/D015831

Mapped from

http://purl.bioontology.org/ontology/MESH/C536043

http://purl.bioontology.org/ontology/MESH/C565200

http://purl.bioontology.org/ontology/MESH/C537293

http://purl.bioontology.org/ontology/MESH/C563487

http://purl.bioontology.org/ontology/MESH/C536063

http://purl.bioontology.org/ontology/MESH/C536041

http://purl.bioontology.org/ontology/MESH/C537407

http://purl.bioontology.org/ontology/MESH/C536048

http://purl.bioontology.org/ontology/MESH/C565178

http://purl.bioontology.org/ontology/MESH/C536042

http://purl.bioontology.org/ontology/MESH/C536045

http://purl.bioontology.org/ontology/MESH/C535617

http://purl.bioontology.org/ontology/MESH/C536047

http://purl.bioontology.org/ontology/MESH/C535392

http://purl.bioontology.org/ontology/MESH/C537406

http://purl.bioontology.org/ontology/MESH/C535963

http://purl.bioontology.org/ontology/MESH/C536044

http://purl.bioontology.org/ontology/MESH/C567172

http://purl.bioontology.org/ontology/MESH/C537037

http://purl.bioontology.org/ontology/MESH/C537558

http://purl.bioontology.org/ontology/MESH/C536039

http://purl.bioontology.org/ontology/MESH/C536049

http://purl.bioontology.org/ontology/MESH/C536046

http://purl.bioontology.org/ontology/MESH/C567042

http://purl.bioontology.org/ontology/MESH/C564921

MDA

19990101

MMR

20130708

MN

C17.300.200.540

C16.320.737

C05.116.099.708.685

notation

D010013

prefLabel

Osteogenesis Imperfecta

TERMUI

T029641

T781826

T811717

T029639

T842214

T029642

T781828

T029640

T781827

TH

UNK (19XX)

NLM (1966)

NLM (2012)

ORD (2010)

OMIM (2013)

GHR (2014)

tui

T019

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D003095

http://purl.bioontology.org/ontology/MESH/D010009

http://purl.bioontology.org/ontology/MESH/D030342

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Delete Mapping To Ontology Source
http://www.owl-ontologies.com/unnamed.owl#RID14895 DERMLEX LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12347 NATPRO LOOM
http://purl.bioontology.org/ontology/OMIM/166200 OMIM CUI
http://purl.bioontology.org/ontology/CSP/1849-7175 CRISP CUI
http://purl.bioontology.org/ontology/CSP/1849-7175 CRISP LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/78314001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/78314001 SNOMEDCT LOOM
http://d-nb.info/gnd/4126192-6 FAST-TOPICAL LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.300.200.540 RH-MESH LOOM
http://purl.jp/bio/4/id/200906078673978709 IOBC LOOM
http://www.gamuts.net/entity#osteogenesis_imperfecta GAMUTS LOOM
http://purl.bioontology.org/ontology/SNMI/D6-90510 SNMI CUI
http://www.orpha.net/ORDO/Orphanet_666 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_666 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_666 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_666 ORDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019019 MONDO LOOM
http://purl.bioontology.org/ontology/MDRFRE/10031243 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0029434 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/ICD9CM/756.51 ICD9CM CUI
http://purl.bioontology.org/ontology/ICD9CM/756.51 ICD9CM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Osteogenesis_Imperfecta CSEO LOOM
http://purl.bioontology.org/ontology/SCTSPA/385482004 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/XE1MD RCD CUI
http://purl.bioontology.org/ontology/RCD/XE1MD RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.737 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/385482004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICPC2P/L82018 ICPC2P CUI
http://purl.bioontology.org/ontology/ICPC2P/L82018 ICPC2P LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26837 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26837 NCIT LOOM
http://purl.bioontology.org/ontology/SCTSPA/78314001 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10031243 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10031243 MEDDRA LOOM
http://purl.bioontology.org/ontology/RCD/PG513 RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D010013 MSHFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D010013 MSHFRE CUI
http://id.loc.gov/authorities/subjects/sh85095985 FAST-TOPICAL LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q78.0 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10CM/Q78.0 ICD10CM LOOM
http://purl.bioontology.org/ontology/SNMI/D6-90500 SNMI CUI
http://sbmi.uth.tmc.edu/ontology/ochv#9082 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D010013 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10006371 MEDDRA CUI
http://purl.bioontology.org/ontology/RCTV2/PG51.00 RCTV2 LOOM
http://purl.obolibrary.org/obo/DERMO_0001816 DERMO LOOM
http://purl.bioontology.org/ontology/MDRFRE/10006371 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/120150 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/120150 OMIM CUI
http://localhost/plosthes.2017-1#6630 PLOSTHES LOOM
http://purl.bioontology.org/ontology/NDFRT/N0000002250 NDFRT CUI
http://purl.obolibrary.org/obo/DOID_12347 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12347 CLO LOOM
http://purl.obolibrary.org/obo/DOID_12347 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12347 DOID LOOM
http://purl.obolibrary.org/obo/DOID_12347 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12347 NIFSTD LOOM
http://www.limics.org/hrdo/rdfns#pat_id_654 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.685 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD10/Q78.0 ICD10 CUI
http://purl.bioontology.org/ontology/ICD10/Q78.0 ICD10 LOOM
http://radlex.org/RID/RID34746 RADLEX LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Osteogenesis_Imperfecta PEDTERM LOOM