About   Help   FAQ
Disease Ontology Browser
fragile X syndrome (DOID:14261)
Alliance: disease page
Synonyms: FRAGILE X MENTAL RETARDATION SYNDROME; MARKER X SYNDROME; MARTIN-BELL SYNDROME
Alt IDs: OMIM:300624, ICD10CM:Q99.2, ICD9CM:759.83, MESH:D005600, NCI:C84717, ORDO:908, UMLS_CUI:C0016667
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.

Disease References using Mouse Models (73)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory