Human Disease Ontology

Last uploaded: May 1, 2024
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Preferred Name

osteogenesis imperfecta
Synonyms

brittle bone disease

Fragilitas ossium
Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN].
ID

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

Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference

ICD10CM:Q78.0

SNOMEDCT_US_2023_03_01:254109004

OMIM:PS166200

UMLS_CUI:C0029434

MESH:D010013

ICD9CM:756.51

GARD:1017

NCI:C26837

ORDO:666
definition

An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
has exact synonym

brittle bone disease

Vrolik's disease

Osteopsathyrosis

Lobstein's syndrome
has_alternative_id

DOID:14708
has_obo_namespace

disease_ontology
has_related_synonym

Fragilitas ossium
id

DOID:12347
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

osteogenesis imperfecta
notation

DOID:12347
prefLabel

osteogenesis imperfecta
subClassOf

http://purl.obolibrary.org/obo/DOID_2256
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_12347 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_12347 GAMUTS SAME_URI
http://purl.obolibrary.org/obo/DOID_12347 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_12347 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_12347 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_12347 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_12347 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_12347 FNS-H SAME_URI
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 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://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 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://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
http://www.gamuts.net/entity#osteogenesis_imperfecta GAMUTS REST