FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Coffin-Lowry syndrome ID (Ontology) DOID:3783 (Human Disease)
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.
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Records annotated with this term OR any of its CHILD TERMS
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
Human Disease Models (FBhh)  DOID       1
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Relevant FlyBase reports
 Alleles Genes Human Disease Models
 Coffin-Lowry syndrome       1      1      1
 for disease ribbon | Coffin-Lowry syndrome       --       1       --
 model of | Coffin-Lowry syndrome       1      1       --
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked dominant disease__
disease                        |
 |__syndrome___________________|
                               Coffin-Lowry syndrome  3 rec.
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Is a X-linked dominant disease
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Synonyms
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GARD:6123
MESH:D038921
MIM:303600
NCI:C84643
SNOMEDCT_US_2023_03_01:15182000
UMLS_CUI:C0265252