Visualize Submit Comment

Metadata
ID	DOID:0060948
Name	Ullrich congenital muscular dystrophy 2
Definition	An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q. https://pubmed.ncbi.nlm.nih.gov/24334604/
Xrefs	GARD:4769 MIM:616470 ORDO:75840
Subsets	DO_rare_slim
Parent Relationships	is_a Ullrich congenital muscular dystrophy