Online Mendelian Inheritance in Man - OSTEOGENESIS IMPERFECTA, TYPE X - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/613848 http://purl.bioontology.org/ontology/OMIM/613848
Preferred Name	OSTEOGENESIS IMPERFECTA, TYPE X
Synonyms	OI10 OI, TYPE X
Type	http://www.w3.org/2002/07/owl#Class

altLabel	OI10 OI, TYPE X
prefLabel	OSTEOGENESIS IMPERFECTA, TYPE X
Gene Symbol	PPROM SERPINH2 SERPINH1 CBP2 OI10 CBP1 See more See less
Scope Statement	Caused by mutation in the serpin peptidase inhibitor, clade H, member 1 (SERPINH1, 600943.0002) [MOLECULAR BASIS] Based on 2 sibs and an unrelated patient (patient A) (last curated October 2016) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU030484 http://purl.bioontology.org/ontology/OMIM/MTHU037540 http://purl.bioontology.org/ontology/OMIM/MTHU036368 http://purl.bioontology.org/ontology/OMIM/MTHU030486 http://purl.bioontology.org/ontology/OMIM/MTHU030488 http://purl.bioontology.org/ontology/OMIM/MTHU000229 http://purl.bioontology.org/ontology/OMIM/MTHU060448 http://purl.bioontology.org/ontology/OMIM/MTHU001623 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU003365 http://purl.bioontology.org/ontology/OMIM/MTHU014136 http://purl.bioontology.org/ontology/OMIM/MTHU008904 http://purl.bioontology.org/ontology/OMIM/MTHU003181 http://purl.bioontology.org/ontology/OMIM/MTHU007254 http://purl.bioontology.org/ontology/OMIM/MTHU030482 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU030485 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU030483 http://purl.bioontology.org/ontology/OMIM/MTHU009332 http://purl.bioontology.org/ontology/OMIM/MTHU029231 http://purl.bioontology.org/ontology/OMIM/MTHU030487 http://purl.bioontology.org/ontology/OMIM/MTHU000035 http://purl.bioontology.org/ontology/OMIM/MTHU005346 http://purl.bioontology.org/ontology/OMIM/MTHU002185 http://purl.bioontology.org/ontology/OMIM/MTHU005900 http://purl.bioontology.org/ontology/OMIM/MTHU007700 http://purl.bioontology.org/ontology/OMIM/MTHU069152 http://purl.bioontology.org/ontology/OMIM/MTHU036675 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU007289 http://purl.bioontology.org/ontology/OMIM/MTHU000585 See more See less
tui	T047
Gene Locus	11q13.5
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	613848
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3151211
OMIM Entry Type	3
OMIM MimType Value	pound

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