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Metadata
ID	DOID:0060946
Name	Ullrich congenital muscular dystrophy 1A
Definition	An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22. https://pubmed.ncbi.nlm.nih.gov/23622361/
Xrefs	MIM:254090
Parent Relationships	is_a Ullrich congenital muscular dystrophy