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DOID:14261 - fragile X syndrome
Disease Ontology 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.
Synonyms: FRAGILE X MENTAL RETARDATION SYNDROME, MARKER X SYNDROME, MARTIN-BELL SYNDROME,
Xenbase Genes : fmr1
MONDO:0010383 - fragile X syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
X-linked monogenic disease (is_a),
syndrome (is_a)