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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 (75)
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)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory