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GENE - TERM ANNOTATION REPORT

RGD ID: 1560603
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Map3k15
Name: mitogen-activated protein kinase kinase kinase 15
Acc ID: DOID:3783
Term: Coffin-Lowry syndrome
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. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome#inheritance "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
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