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Disease Ontology Browser
fragile X syndrome (DOID:14261)
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, UMLS_CUI:C0016667
Definition: An X-linked disease 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 (57)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/08/2017
MGI 6.10
The Jackson Laboratory