FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term chromosome 17q12 deletion syndrome ID (Ontology) DOID:0060404 (Human Disease)
Definition A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder.
Also Known As "17q12 microdeletion 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)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       3
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
 chromosome 17q12 deletion syndrome       3      3
 model of | chromosome 17q12 deletion syndrome       3       --
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease_____
chromosomal disease                |
 |__chromosomal deletion syndrome__|
                                   chromosome 17q12 deletion syndrome  6 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
chromosomal deletion syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "17q12 microdeletion syndrome" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:13297
ICD10CM:Q93.5
MIM:614527
ORDO:261265