About   Help   FAQ
Disease Ontology Browser
RIDDLE syndrome (DOID:0090113)
Alliance: disease page
Synonyms: Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency
Alt IDs: OMIM:611943, ICD10CM:D82.8, MESH:C567453, ORDO:420741
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory