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Metadata
ID	DOID:0060943
Name	Ullrich congenital muscular dystrophy 1C
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 or heterozygous mutation in the COL6A3 gene on chromosome 2q37. https://pubmed.ncbi.nlm.nih.gov/23622361/
Xrefs	MIM:620728
Parent Relationships	is_a Ullrich congenital muscular dystrophy
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance