FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term RIDDLE syndrome ID (Ontology) DOID:0090113 (Human Disease)
Definition A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29.
Also Known As "Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome" ; "RNF168 deficiency"
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 Genes
 RIDDLE syndrome       1
 for disease ribbon | RIDDLE syndrome       1
 model of | RIDDLE syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 RIDDLE syndrome  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome" EXACT
    "RNF168 deficiency" EXACT
Secondary IDs
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ICD10CM:D82.8
MESH:C567453
MIM:611943
ORDO:420741