Experimental Factor Ontology

Last uploaded: June 18, 2024
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Preferred Name

osteogenesis imperfecta
Synonyms

Osteopsathyrosis

brittle bone disease

Lobstein's syndrome

Lobstein disease

glass bone disease

Vrolik's disease

Porak and Durante disease

OI

Fragilitas ossium

Vrolik disease
Definitions

Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.
ID

http://purl.obolibrary.org/obo/MONDO_0019019
closeMatch

http://identifiers.org/meddra/10031243
database_cross_reference

NANDO:2201011

SCTID:78314001

ICD10CM:Q78.0

icd11.foundation:1219932551

UMLS:C0029434

Orphanet:666

NANDO:1200873

MedDRA:10031243

NCIT:C26837

OMIMPS:166200

ICD9:756.51

MESH:D010013

DOID:12347

GARD:1017

NORD:1535
definition

Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.
exactMatch

http://purl.bioontology.org/ontology/ICD10CM/Q78.0

http://purl.obolibrary.org/obo/Orphanet_666

http://identifiers.org/snomedct/78314001

https://omim.org/phenotypicSeries/PS166200

http://purl.obolibrary.org/obo/NCIT_C26837

http://purl.obolibrary.org/obo/DOID_12347

http://linkedlifedata.com/resource/umls/id/C0029434

http://identifiers.org/mesh/D010013
has_exact_synonym

Osteopsathyrosis

brittle bone disease

Lobstein's syndrome

Lobstein disease

glass bone disease

Vrolik's disease

Porak and Durante disease

OI
has_related_synonym

Fragilitas ossium

Vrolik disease
id

MONDO:0019019
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease
label

osteogenesis imperfecta
notation

MONDO:0019019
prefLabel

osteogenesis imperfecta
see also

https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta
subClassOf

http://www.ebi.ac.uk/efo/EFO_0000508

http://www.ebi.ac.uk/efo/EFO_0005571
excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0019704
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0019019 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019019 GCBO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019019 DOVES SAME_URI
http://nanbyodata.jp/ontology/NANDO_1200873 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_12347 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_2201011 NANDO 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
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 GCBO 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 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
http://purl.bioontology.org/ontology/MESH/D010013 MESH LOOM