Visualize Submit Comment
Metadata
ID DOID:0050558
Name Ullrich congenital muscular dystrophy
Definition A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen.
https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy
Xrefs

GARD:4769

OMIM:254090

Subsets

DO_rare_slim

Synonyms

ULLRICH DISEASE [EXACT]

Ullrich scleroatonic muscular dystrophy [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a autosomal dominant disease

is_a congenital muscular dystrophy

Add an item to the term tracker