Ullrich congenital muscular dystrophy

Term ID

DOID:0050558

Synonyms

ULLRICH DISEASE
Ullrich scleroatonic muscular dystrophy

Definition

A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes. https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy

References

GARD:4769
ORDO:75840

Ontology

Human Disease ( DOID:0050558 )

Relationships

is a type of: autosomal dominant disease autosomal recessive disease congenital muscular dystrophy

autosomal dominant disease autosomal recessive disease congenital muscular dystrophy Show first 5 Terms
has subtype: Ullrich congenital muscular dystrophy 1A Ullrich congenital muscular dystrophy 1B Ullrich congenital muscular dystrophy 1C Ullrich congenital muscular dystrophy 2

Ullrich congenital muscular dystrophy 1A Ullrich congenital muscular dystrophy 1B Ullrich congenital muscular dystrophy 1C Ullrich congenital muscular dystrophy 2 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models