FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term vascular type Ehlers-Danlos syndrome ID (Ontology) DOID:14756 (Human Disease)
Definition An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.
Also Known As "autosomal dominant type IV Ehlers-Danlos syndrome" ; "Ehlers-Danlos syndrome type 4" ; "Ehlers-Danlos syndrome type IV"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
No relevant records available
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
No relevant statements available
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease__
collagen disease                |
 |__Ehlers-Danlos syndrome______|
                                vascular type Ehlers-Danlos syndrome
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
Ehlers-Danlos syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "autosomal dominant type IV Ehlers-Danlos syndrome" EXACT
    "Ehlers-Danlos syndrome type 4" EXACT
    "Ehlers-Danlos syndrome type IV" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:2082
MIM:130050
NCI:C125699
ORDO:286