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Human Disease

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
has subtype
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Genes Involved
Zebrafish Models