Details of Disease | DrugMAP

General Information of Disease (ID: DISK8VRL)

Disease Name	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Synonyms	OIEDS Syndrome 1; OIEDS1; combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Disease Hierarchy	DISK4W8M: Ehlers-Danlos/osteogenesis imperfecta syndrome DISK8VRL: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Disease Identifiers	MONDO ID MONDO_0030854 UMLS CUI C5436842 OMIM ID 619115 MedGen ID 1763836

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
COL1A1	OTI31178	Definitive	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.