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Ullrich congenital muscular dystrophy 2

Summary
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.
Super Class
Ullrich congenital muscular dystrophy
Disease Ontology
DOID:0060948
Mondo Disease Ontology
ORDO
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1303 COL12A1 collagen type XII alpha 1 chain
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q99715 Collagen alpha-1(XII) chain
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 4, 2025