FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term fragile X syndrome ID (Ontology) DOID:14261 (Human Disease)
Definition A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.
Also Known As "FRAGILE X MENTAL RETARDATION SYNDROME" ; "MARKER X SYNDROME" ; "MARTIN-BELL SYNDROME"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS      80
Human Disease Models (FBhh)  DOID       2
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 Human Disease Models
 fragile X syndrome      81     33      2
 ameliorates | fragile X syndrome      41       --       --
 exacerbates | fragile X syndrome       4       --       --
 for disease ribbon | fragile X syndrome       --       1       --
 model of | fragile X syndrome      37      1       --
Spanning Tree (Parents/Children)
Only view relationship: 
X-linked monogenic disease
 |__X-linked dominant disease__
disease                        |
 |__syndrome___________________|
                               fragile X syndrome  116 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a X-linked dominant disease
syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "FRAGILE X MENTAL RETARDATION SYNDROME" EXACT
    "MARKER X SYNDROME" EXACT
    "MARTIN-BELL SYNDROME" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:6464
ICD10CM:Q99.2
ICD9CM:759.83
MESH:D005600
MIM:300624
NCI:C84717
ORDO:908
SNOMEDCT_US_2023_03_01:390007001
UMLS_CUI:C0016667