FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term autosomal recessive limb-girdle muscular dystrophy type 28 ID (Ontology) DOID:0061130 (Human Disease)
Definition An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCR gene on chromosome 5q13.
Also Known As "LGMDR28" ; "Limb-girdle, type 28R"
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)
No relevant records available
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
 autosomal recessive limb-girdle muscular dystrophy type 28       1
 for disease ribbon | autosomal recessive limb-girdle muscular dystrophy type 28       1
 model of | autosomal recessive limb-girdle muscular dystrophy type 28       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal recessive disease_____
limb-girdle muscular dystrophy__|
                                autosomal recessive limb-girdle muscular dystrophy
                                 |__autosomal recessive limb-girdle muscular dystrophy type 28  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive limb-girdle muscular dystrophy
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "LGMDR28" EXACT OMO:0003012
    "Limb-girdle, type 28R" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MIM:620375