Details of Disease

General Information of Disease (ID: DISVRWVW)

Disease Name Ehlers-Danlos syndrome, musculocontractural type 2
Synonyms
EDSMC2; Ehlers-Danlos syndrome, musculocontractural type, 2; Ehlers-Danlos syndrome, musculocontractural type 2; Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE; DSE Ehlers-Danlos syndrome, musculocontractural type
Definition Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene.
Disease Hierarchy
DIS6XBQP: Ehlers-Danlos syndrome, musculocontractural type
DISVRWVW: Ehlers-Danlos syndrome, musculocontractural type 2
Disease Identifiers
MONDO ID
MONDO_0014236
UMLS CUI
C3809845
OMIM ID
615539
MedGen ID
816175

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
DSE OTQ108VJ Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.