FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term SHORT syndrome ID (Ontology) DOID:0111454 (Human Disease)
Definition A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.
Also Known As "Aarskog-Ose-Pande syndrome" ; "Lipodystrophy-Rieger anomaly-diabetes syndrome" ; "Rieger anomaly-partial lipodystrophy syndrome" (for all, see Synonyms field below)
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
 SHORT syndrome       1
 for disease ribbon | SHORT syndrome       1
 model of | SHORT syndrome       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                SHORT syndrome  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "Aarskog-Ose-Pande syndrome" EXACT
    "Lipodystrophy-Rieger anomaly-diabetes syndrome" EXACT
    "Rieger anomaly-partial lipodystrophy syndrome" EXACT
    "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:7633
MESH:C537327
MIM:269880
ORDO:3163
UMLS_CUI:C0878684