Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/301014
http://purl.bioontology.org/ontology/OMIM/301014
Preferred Name

OSTEOGENESIS IMPERFECTA, TYPE XIX
Synonyms
OI19
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
OI19
prefLabel
OSTEOGENESIS IMPERFECTA, TYPE XIX
Gene Symbol
MBTPS2
OI19
IFAP
KFSDX
S2P
OLMSX
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Scope Statement
Variable presence of scoliosis and pectus deformities [MISCELLANEOUS]
Caused by mutation in the membrane-bound transcription factor protease, site 2 gene (MBTPS2, 300294.0009) [MOLECULAR BASIS]
Fractures may decrease in frequency after puberty [MISCELLANEOUS]
Prenatal fractures [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU061630
http://purl.bioontology.org/ontology/OMIM/MTHU010212
http://purl.bioontology.org/ontology/OMIM/MTHU000191
http://purl.bioontology.org/ontology/OMIM/MTHU061640
http://purl.bioontology.org/ontology/OMIM/MTHU061637
http://purl.bioontology.org/ontology/OMIM/MTHU061642
http://purl.bioontology.org/ontology/OMIM/MTHU061636
http://purl.bioontology.org/ontology/OMIM/MTHU061639
http://purl.bioontology.org/ontology/OMIM/MTHU061632
http://purl.bioontology.org/ontology/OMIM/MTHU007232
http://purl.bioontology.org/ontology/OMIM/MTHU036699
http://purl.bioontology.org/ontology/OMIM/MTHU061635
http://purl.bioontology.org/ontology/OMIM/MTHU061638
http://purl.bioontology.org/ontology/OMIM/MTHU001106
http://purl.bioontology.org/ontology/OMIM/MTHU003184
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU061631
http://purl.bioontology.org/ontology/OMIM/MTHU061641
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tui
T047
Gene Locus
Xp22.12-p22.11
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
301014
Semantic type UMLS property
Has inheritance type
cui
C4746956
OMIM Entry Type
3
OMIM MimType Value
pound
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