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Ehlers-Danlos syndrome, musculocontractural type 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene.
Uniprot Description A form of Ehlers-Danlos syndrome characterized by progressive multisystem manifestations, including joint dislocations and deformities, skin hyperextensibility, skin bruisability and fragility with recurrent large subcutaneous hematomas, cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications. Motor developmental delay is associated with muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood.
Mondo Term and Equivalent IDs
MONDO:0014236:  Ehlers-Danlos syndrome, musculocontractural type 2
UMLS:C3809845: