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DOID:3783 - Coffin-Lowry syndrome
Disease Ontology Definition:A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22.
Synonyms: Coffin-Lowry syndrome (disorder),
Xenbase Genes : rps6ka3
MONDO:0010561 - Coffin-Lowry syndrome |
Other Model Organisms: AGR, 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)