Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618644
http://purl.bioontology.org/ontology/OMIM/618644
Preferred Name

OSTEOGENESIS IMPERFECTA, TYPE XX
Synonyms
OI20
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
OI20
prefLabel
OSTEOGENESIS IMPERFECTA, TYPE XX
Gene Symbol
MESD
MESDC2
KIAA0081
BOCA
OI20
Scope Statement
Shortened and bowed long bones may be observed on prenatal ultrasound [MISCELLANEOUS]
Death due to respiratory failure has occurred in some patients [MISCELLANEOUS]
Caused by mutation in the mesoderm development LRP chaperone gene (MESD, 607783.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU066494
http://purl.bioontology.org/ontology/OMIM/MTHU000231
http://purl.bioontology.org/ontology/OMIM/MTHU017295
http://purl.bioontology.org/ontology/OMIM/MTHU000229
http://purl.bioontology.org/ontology/OMIM/MTHU066501
http://purl.bioontology.org/ontology/OMIM/MTHU010212
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU002047
http://purl.bioontology.org/ontology/OMIM/MTHU009016
http://purl.bioontology.org/ontology/OMIM/MTHU000830
http://purl.bioontology.org/ontology/OMIM/MTHU059484
http://purl.bioontology.org/ontology/OMIM/MTHU002029
http://purl.bioontology.org/ontology/OMIM/MTHU007082
http://purl.bioontology.org/ontology/OMIM/MTHU002599
http://purl.bioontology.org/ontology/OMIM/MTHU006054
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU066497
http://purl.bioontology.org/ontology/OMIM/MTHU036699
http://purl.bioontology.org/ontology/OMIM/MTHU001627
http://purl.bioontology.org/ontology/OMIM/MTHU000259
http://purl.bioontology.org/ontology/OMIM/MTHU079574
http://purl.bioontology.org/ontology/OMIM/MTHU048190
http://purl.bioontology.org/ontology/OMIM/MTHU001172
http://purl.bioontology.org/ontology/OMIM/MTHU000088
http://purl.bioontology.org/ontology/OMIM/MTHU036222
http://purl.bioontology.org/ontology/OMIM/MTHU037442
http://purl.bioontology.org/ontology/OMIM/MTHU002784
http://purl.bioontology.org/ontology/OMIM/MTHU036416
http://purl.bioontology.org/ontology/OMIM/MTHU010284
http://purl.bioontology.org/ontology/OMIM/MTHU004166
http://purl.bioontology.org/ontology/OMIM/MTHU005933
http://purl.bioontology.org/ontology/OMIM/MTHU000577
http://purl.bioontology.org/ontology/OMIM/MTHU001305
http://purl.bioontology.org/ontology/OMIM/MTHU013384
http://purl.bioontology.org/ontology/OMIM/MTHU002674
http://purl.bioontology.org/ontology/OMIM/MTHU000035
http://purl.bioontology.org/ontology/OMIM/MTHU000033
http://purl.bioontology.org/ontology/OMIM/MTHU007845
http://purl.bioontology.org/ontology/OMIM/MTHU003860
http://purl.bioontology.org/ontology/OMIM/MTHU001721
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU012198
http://purl.bioontology.org/ontology/OMIM/MTHU079573
http://purl.bioontology.org/ontology/OMIM/MTHU066493
http://purl.bioontology.org/ontology/OMIM/MTHU059097
http://purl.bioontology.org/ontology/OMIM/MTHU015980
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU066502
http://purl.bioontology.org/ontology/OMIM/MTHU066490
http://purl.bioontology.org/ontology/OMIM/MTHU004645
http://purl.bioontology.org/ontology/OMIM/MTHU066500
http://purl.bioontology.org/ontology/OMIM/MTHU013397
http://purl.bioontology.org/ontology/OMIM/MTHU066499
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tui
T047
Gene Locus
15q25.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618644
Semantic type UMLS property
Has inheritance type
cui
C5231439
OMIM Entry Type
3
OMIM MimType Value
pound
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