FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term chromosome 3q13.31 deletion syndrome ID (Ontology) DOID:0060418 (Human Disease)
Definition A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia.
Also Known As "3q13 microdeletion syndrome" ; "monosomy 3q13"
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: 
  chromosomal disease
   |__chromosomal deletion syndrome
       |__chromosome 3q13.31 deletion syndrome
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a chromosomal deletion syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "3q13 microdeletion syndrome" EXACT
    "monosomy 3q13" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MESH:C536808
MIM:615433
ORDO:1621
SNOMEDCT_US_2023_03_01:726705007
UMLS_CUI:C2931338