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 B2 ID (Ontology) DOID:0112380 (Human Disease)
Definition A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.
Also Known As "congenital muscular dystrophy POMT2-related" ; "MDDGB2"
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       1
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 B2       1      1
 for disease ribbon | muscular dystrophy-dystroglycanopathy type B2       1       --
 model of | muscular dystrophy-dystroglycanopathy type B2       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 B2  2 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
  • "congenital muscular dystrophy POMT2-related" EXACT
    "MDDGB2" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
MIM:613156