fragile X syndrome

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: fmr1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010383 - fragile X syndrome

MONDO:0010383 - fragile X syndrome

MIM:

MIM:300624 - FRAGILE X SYNDROME; FXS

MIM:300624 - FRAGILE X SYNDROME; FXS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): syndrome (is_a), X-linked dominant disease (is_a), X-linked monogenic disease (is_a)