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Preferred Name

osteogenesis imperfecta
Synonyms

brittle bone disease
Definitions

autosomal dominant collagen disease resulting from defective biosynthesis of collagen type I and characterized by brittle, osteoporotic, and easily fractured bones; may also present with blue sclerae, loose joints, and imperfect dentin formation.
ID

http://purl.bioontology.org/ontology/CSP/1849-7175
altLabel

brittle bone disease
cui

C0029434
definition

autosomal dominant collagen disease resulting from defective biosynthesis of collagen type I and characterized by brittle, osteoporotic, and easily fractured bones; may also present with blue sclerae, loose joints, and imperfect dentin formation.
DID

1849-7175
Inverse of RB

http://purl.bioontology.org/ontology/CSP/2715-1497

http://purl.bioontology.org/ontology/CSP/0726-3953

http://purl.bioontology.org/ontology/CSP/0729-7550

http://purl.bioontology.org/ontology/CSP/1254-7727
Inverse of RO

http://purl.bioontology.org/ontology/CSP/1254-7792
notation

1849-7175
prefLabel

osteogenesis imperfecta
tui

T047
subClassOf

http://purl.bioontology.org/ontology/CSP/2715-1497

http://purl.bioontology.org/ontology/CSP/0726-3953

http://purl.bioontology.org/ontology/CSP/0729-7550

http://purl.bioontology.org/ontology/CSP/1254-7727
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Delete Mapping To Ontology Source
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/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/MESH/D010013 MESH CUI
http://purl.obolibrary.org/obo/DOID_12347 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0019019 MONDO LOOM
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
rgo:09488 GAMUTS LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036731 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/MONDO_0019019 GCBO LOOM
http://purl.obolibrary.org/obo/MONDO_0019019 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0019019 EFO 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/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://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://nanbyodata.jp/ontology/NANDO_1200873 NANDO 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 DDSS 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://www.radlex.org/RID/RID34746 RADLEX LOOM
http://purl.bioontology.org/ontology/ICPC2P/L82018 ICPC2P LOOM
http://nanbyodata.jp/ontology/NANDO_2201011 NANDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10031243 MEDDRA LOOM
http://purl.bioontology.org/ontology/MESH/D010013 MESH LOOM