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Ullrich congenital muscular dystrophy

Disease Summary
Associated Targets (4)
Tbio

4


Explore Associated Targets
Mondo Description Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.
Disease Ontology Description A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen.
Mondo Term and Equivalent IDs
MONDO:0000355:  Ullrich congenital muscular dystrophy
GARD:0004769: 
MESH:C537521: 
NCIT:C123438: 
OMIMPS:254090: 
Orphanet:75840: 
SCTID:240062007: 
UMLS:C0410179: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)