Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

Osteogenesis Imperfecta

Synonyms

Lobsteins 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

Lobsteins Disease

Brittle Bone Disease

Osteogenesis Imperfecta Tarda

Lobstein Disease

Disease, Lobstein's

Disease, Lobstein

Ossiums, Fragilitas

Osteogenesis Imperfecta Tardas

Osteogenesis Imperfecta, Type 1

Fragilitas Ossium

Osteogenesis Imperfecta, Type I

Osteogenesis Imperfecta with Blue Sclerae

Lobstein's Disease

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

C0029434

C0023931

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

D024042

D003811

Inverse of AQ

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Inverse of RO

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

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

Mapped from

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

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

http://purl.bioontology.org/ontology/MESH/C000631847

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

MDA

19990101

MMR

20130708

MN

C16.320.737

C17.300.200.540

C05.116.099.708.685

notation

D010013

prefLabel

Osteogenesis Imperfecta

TERMUI

T781828

T029640

T781826

T842214

T781827

T029641

T029639

T029642

T811717

TH

OMIM (2013)

NLM (1966)

NLM (2012)

UNK (19XX)

GHR (2014)

ORD (2010)

tui

T047

subClassOf

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

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

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

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNOMEDCT/385482004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10CM/Q78.0 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/D6-90500 SNMI CUI
http://purl.bioontology.org/ontology/CSP/1849-7175 CRISP CUI
http://purl.bioontology.org/ontology/OMIM/120150 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10031243 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/XE1MD RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/78314001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0029434 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/SCTSPA/78314001 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002250 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10006371 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10006371 MDRGER CUI
http://purl.bioontology.org/ontology/ICD9CM/756.51 ICD9CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10031243 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10006371 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10/Q78.0 ICD10 CUI
http://purl.bioontology.org/ontology/ICPC2P/L82018 ICPC2P CUI
http://purl.bioontology.org/ontology/MSHFRE/D010013 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10031243 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/166200 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/120150 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/385482004 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D6-90510 SNMI CUI
http://purl.bioontology.org/ontology/RCD/PG513 RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D010013 MSHFRE CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.685 RH-MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0001816 DERMO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12347 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#9082 OCHV LOOM
http://purl.bioontology.org/ontology/RCTV2/PG51.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q78.0 ICD10CM LOOM
http://www.gamuts.net/entity#osteogenesis_imperfecta GAMUTS LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036731 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/MONDO_0019019 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019019 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019019 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Osteogenesis_Imperfecta CSEO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26837 NCIT LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Osteogenesis_Imperfecta PEDTERM LOOM
http://localhost/plosthes.2017-1#6630 PLOSTHES LOOM
http://purl.bioontology.org/ontology/CSP/1849-7175 CRISP LOOM
http://purl.bioontology.org/ontology/RCD/XE1MD RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.300.200.540 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.737 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_666 ORDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/78314001 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0029434 MEDLINEPLUS LOOM
http://purl.obolibrary.org/obo/OMIT_0011019 OMIT LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14895 DERMLEX LOOM
http://radlex.org/RID/RID34746 RADLEX LOOM
http://purl.obolibrary.org/obo/NCIT_C26837 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D010013 RH-MESH LOOM
http://purl.jp/bio/4/id/200906078673978709 IOBC LOOM
http://purl.bioontology.org/ontology/ICD9CM/756.51 ICD9CM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_654 HRDO LOOM
http://purl.obolibrary.org/obo/DOID_12347 CLO LOOM
http://purl.obolibrary.org/obo/DOID_12347 DTO 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 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12347 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12347 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_12347 FNS-H LOOM
http://purl.bioontology.org/ontology/ICD10/Q78.0 ICD10 LOOM
http://purl.bioontology.org/ontology/ICPC2P/L82018 ICPC2P LOOM
http://purl.bioontology.org/ontology/MEDDRA/10031243 MEDDRA LOOM