Details of Disease | DrugMAP

General Information of Disease (ID: DISWY1VQ)

Disease Name	Spondyloepiphyseal dysplasia, Stanescu type
Synonyms	spondyloepiphyseal dysplasia, Stanescu type; SED, Stanescu type; SEDSTN
Disease Hierarchy	DIS8WIDY: Type 2 collagenopathy DIS1JG9A: Spondyloepiphyseal dysplasia DISWY1VQ: Spondyloepiphyseal dysplasia, Stanescu type
Disease Identifiers	MONDO ID MONDO_0014701 UMLS CUI C4225273 OMIM ID 616583 MedGen ID 905084 Orphanet ID 459051 SNOMED CT ID 1228860003

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
COL2A1	OT5E59C8	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.