Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/619131
http://purl.bioontology.org/ontology/OMIM/619131
Preferred Name

OSTEOGENESIS IMPERFECTA, TYPE XXI
Synonyms
OI21
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
OI21
prefLabel
OSTEOGENESIS IMPERFECTA, TYPE XXI
Gene Symbol
OI21
KDELR2
ELP1
Scope Statement
Prenatal fractures in some patients [MISCELLANEOUS]
Caused by mutation in the KDEL endoplasmic reticulum protein retention receptor 2 gene (KDELR2, 609024.0001) [MOLECULAR BASIS]
Wheelchair-dependence in most patients [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU072303
http://purl.bioontology.org/ontology/OMIM/MTHU004627
http://purl.bioontology.org/ontology/OMIM/MTHU004435
http://purl.bioontology.org/ontology/OMIM/MTHU000191
http://purl.bioontology.org/ontology/OMIM/MTHU011138
http://purl.bioontology.org/ontology/OMIM/MTHU072302
http://purl.bioontology.org/ontology/OMIM/MTHU068763
http://purl.bioontology.org/ontology/OMIM/MTHU001361
http://purl.bioontology.org/ontology/OMIM/MTHU072306
http://purl.bioontology.org/ontology/OMIM/MTHU028198
http://purl.bioontology.org/ontology/OMIM/MTHU036699
http://purl.bioontology.org/ontology/OMIM/MTHU064384
http://purl.bioontology.org/ontology/OMIM/MTHU072304
http://purl.bioontology.org/ontology/OMIM/MTHU004643
http://purl.bioontology.org/ontology/OMIM/MTHU001788
http://purl.bioontology.org/ontology/OMIM/MTHU006913
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU000038
http://purl.bioontology.org/ontology/OMIM/MTHU058011
http://purl.bioontology.org/ontology/OMIM/MTHU072305
http://purl.bioontology.org/ontology/OMIM/MTHU072307
http://purl.bioontology.org/ontology/OMIM/MTHU000033
http://purl.bioontology.org/ontology/OMIM/MTHU005900
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU043697
http://purl.bioontology.org/ontology/OMIM/MTHU036724
http://purl.bioontology.org/ontology/OMIM/MTHU036675
http://purl.bioontology.org/ontology/OMIM/MTHU000585
http://purl.bioontology.org/ontology/OMIM/MTHU072301
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tui
T047
Gene Locus
7p22.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
619131
Semantic type UMLS property
Has inheritance type
cui
C5436875
OMIM Entry Type
3
OMIM MimType Value
pound
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