Details of Disease | DrugMAP

General Information of Disease (ID: DIS1VTDS)

Disease Name	Osteogenesis imperfecta, type 20
Synonyms	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
Disease Hierarchy	DIS7XQSD: Osteogenesis imperfecta DIS1VTDS: Osteogenesis imperfecta, type 20
Disease Identifiers	MONDO ID MONDO_0032846 UMLS CUI C5231439 OMIM ID 618644 MedGen ID 1684751

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MESD	OT3B2H8F	Strong	Autosomal recessive	[1]
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References

1	Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. Am J Hum Genet. 2019 Oct 3;105(4):836-843. doi: 10.1016/j.ajhg.2019.08.008. Epub 2019 Sep 26.