FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term arthrogryposis multiplex congenita-3 ID (Ontology) DOID:0080979 (Human Disease)
Definition An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25.
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
 arthrogryposis multiplex congenita-3       1
 for disease ribbon | arthrogryposis multiplex congenita-3       1
 model of | arthrogryposis multiplex congenita-3       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal recessive disease__
physical disorder____________|
nervous system disease_______|
                             arthrogryposis multiplex congenita
                              |__arthrogryposis multiplex congenita-3  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a arthrogryposis multiplex congenita
Part of
hide Synonyms & Secondary IDs
Synonyms
Secondary IDs
hide External Crossreferences & Linkouts
MIM:618484