General Information
Term	Ullrich congenital muscular dystrophy	ID (Ontology)	DOID:0050558 (Human Disease)
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.
Also Known As	"ULLRICH DISEASE" ; "Ullrich scleroatonic muscular dystrophy"
Comment
Links to External Ontologies
	DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
No relevant records available
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
No relevant statements available

General Information

Term

Ullrich congenital muscular dystrophy

ID (Ontology)

DOID:0050558 (Human Disease)

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.

Also Known As

"ULLRICH DISEASE" ; "Ullrich scleroatonic muscular dystrophy"

Comment

Links to External Ontologies

DO.org

Annotations

Records annotated with this term OR any of its CHILD TERMS

Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records

No relevant statements available

autosomal genetic disease
 |__autosomal dominant disease_____
 |__autosomal recessive disease____|
physical disorder                  |
 |__congenital muscular dystrophy__|
muscular dystrophy                 |
 |__congenital muscular dystrophy__|
                                   Ullrich congenital muscular dystrophy
                                    |__Ullrich congenital muscular dystrophy 1A
                                    |__Ullrich congenital muscular dystrophy 1B
                                    |__Ullrich congenital muscular dystrophy 1C
                                    |__Ullrich congenital muscular dystrophy 2

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Relationships
Is a	congenital muscular dystrophy autosomal dominant disease autosomal recessive disease
Part of
Synonyms & Secondary IDs
Synonyms
	"ULLRICH DISEASE" EXACT "Ullrich scleroatonic muscular dystrophy" EXACT
Secondary IDs

External Crossreferences & Linkouts
	GARD:4769 ORDO:75840

Spanning Tree View Settings

Parents/Children
View Depth

Relationships

Is a

congenital muscular dystrophy
autosomal dominant disease
autosomal recessive disease

Part of

Synonyms & Secondary IDs

Synonyms

"ULLRICH DISEASE" EXACT
"Ullrich scleroatonic muscular dystrophy" EXACT

Secondary IDs

External Crossreferences & Linkouts

GARD:4769
ORDO:75840