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Namespace Prefixes

Prefix	IRI
n8	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
obo	http://www.geneontology.org/formats/oboInOwl#
n4	http://purl.obolibrary.org/obo/doid#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

n2:DOID_12347

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_2256

rdfs:label

osteogenesis imperfecta

rdfs:comment

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

wdrs:describedby

n8:doid.owl

obo:id

DOID:12347

obo:hasAlternativeId

DOID:14708

obo:hasDbXref

ICD9CM:756.51 MESH:D010013 ICD10CM:Q78.0 GARD:1017 NCI:C26837 UMLS_CUI:C0029434 SNOMEDCT_US_2021_09_01:254109004 OMIM:PS166200 ORDO:666

obo:hasExactSynonym

Vrolik's disease brittle bone disease Lobstein's syndrome Osteopsathyrosis

obo:hasOBONamespace

disease_ontology

obo:hasRelatedSynonym

Fragilitas ossium

obo:inSubset

n4:DO_rare_slim n4:NCIthesaurus

n2:IAO_0000115

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