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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
Download Data for Ehlers-Danlos syndrome, musculocontractural type 2
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:615539
UMLS:C3809845
MONDO:0014236
High level summary of knowledge for a disease, including descriptions and datasource references.