FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term autosomal dominant isolated ectopia lentis 1 ID (Ontology) DOID:0111150 (Human Disease)
Definition An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.
Also Known As "ECTOL1"
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 dominant isolated ectopia lentis 1       2
 for disease ribbon | autosomal dominant isolated ectopia lentis 1       2
 model of | autosomal dominant isolated ectopia lentis 1       2
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease__
lens disease                    |
 |__isolated ectopia lentis_____|
                                autosomal dominant isolated ectopia lentis 1  2 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
isolated ectopia lentis
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "ECTOL1" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
MIM:129600
UMLS_CUI:C1851286