FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term contractures, pterygia, and spondylocarpotarsal fusion syndrome ID (Ontology) DOID:0080110 (Human Disease)
Definition A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits.
Also Known As "multiple pterygium syndrome"
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
 Alleles Genes
 contractures, pterygia, and spondylocarpotarsal fusion syndrome       1      9
 for disease ribbon | contractures, pterygia, and spondylocarpotarsal fusion syndrome       --       8
 model of | contractures, pterygia, and spondylocarpotarsal fusion syndrome       1      8
Spanning Tree (Parents/Children)
Only view relationship: 
integumentary system disease
 |__skin disease_______
disease                |
 |__syndrome___________|
genetic disease        |
 |__monogenic disease__|
                       contractures, pterygia, and spondylocarpotarsal fusion syndrome  11 rec.
                        |__contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 1 rec.
                        |__contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a monogenic disease
syndrome
skin disease
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "multiple pterygium syndrome" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MESH:C537377
MIM:253290
MIM:265000
MIM:312150
MIM:PS178110