Mondo Disease Ontology

Last uploaded: November 25, 2024

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Preferred Name	osteogenesis imperfecta
Synonyms	Vrolik disease Fragilitas ossium Lobstein disease Porak and Durante disease Lobstein's syndrome brittle bone disease OI Osteopsathyrosis Vrolik's disease glass bone 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
database_cross_reference	NORD:1535 UMLS:C0029434 GARD:1017 DOID:12347 OMIMPS:166200 NANDO:2201011 icd11.foundation:1219932551 Orphanet:666 NANDO:1200873 SCTID:78314001 ICD10CM:Q78.0 ICD9:756.51 MEDGEN:45246 NCIT:C26837 MESH:D010013 MedDRA:10031243
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.
has_exact_synonym	Lobstein disease Porak and Durante disease Lobstein's syndrome brittle bone disease OI Osteopsathyrosis Vrolik's disease glass bone disease
has_related_synonym	Vrolik disease Fragilitas ossium
id	MONDO:0019019
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label	osteogenesis imperfecta
notation	MONDO:0019019
prefLabel	osteogenesis imperfecta
seeAlso	https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta
should_conform_to	http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml
skos_closeMatch	http://identifiers.org/meddra/10031243
skos_exactMatch	http://purl.bioontology.org/ontology/ICD10CM/Q78.0 http://identifiers.org/medgen/45246 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1219932551 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
treeView	http://purl.obolibrary.org/obo/MONDO_0003847 http://purl.obolibrary.org/obo/MONDO_0005516
excluded subClassOf	http://purl.obolibrary.org/obo/MONDO_0019704
subClassOf	http://purl.obolibrary.org/obo/MONDO_0003847 http://purl.obolibrary.org/obo/MONDO_0005516

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0019019	GCBO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019019	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019019	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019019	DOVES	SAME_URI
http://purl.obolibrary.org/obo/DOID_12347	DOID	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/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://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