Ullrich congenital muscular dystrophy 1A

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Information
Disease name
Ullrich congenital muscular dystrophy 1A
Disease ID
DOID:0060946
Description
"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." [url:https\://pubmed.ncbi.nlm.nih.gov/23622361/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:0050558
Cross Reference ID (Disease Ontology)
MIM:254090