FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term muscular dystrophy-dystroglycanopathy type B1 ID (Ontology) DOID:0050588 (Human Disease)
Definition A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.
Also Known As "CMD due to dystroglycanopathy" ; "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Human Disease Models (FBhh)  DOID       2
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes Human Disease Models
 muscular dystrophy-dystroglycanopathy type B1       1      2
 for disease ribbon | muscular dystrophy-dystroglycanopathy type B1       1       --
 model of | muscular dystrophy-dystroglycanopathy type B1       1       --
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease___________________
muscular dystrophy-dystroglycanopathy             |
 |__muscular dystrophy-dystroglycanopathy type B__|
                                                  muscular dystrophy-dystroglycanopathy type B1  3 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
muscular dystrophy-dystroglycanopathy type B
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "CMD due to dystroglycanopathy" EXACT
    "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MIM:613155