Details of Disease | DrugMAP

General Information of Disease (ID: DISMVYJG)

Disease Name	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
Synonyms	combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2; OIEDS2; OIEDS Syndrome 2
Disease Hierarchy	DISK4W8M: Ehlers-Danlos/osteogenesis imperfecta syndrome DISMVYJG: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
Disease Identifiers	MONDO ID MONDO_0030855 UMLS CUI C5436847 OMIM ID 619120 MedGen ID 1751229

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
COL1A2	TTUABC1	Moderate	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL1A2	OTY7G382	Moderate	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.