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: An autosomal recessive disease 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 & Copyright Notice
Send questions and comments to User Support.
last database update
02/04/2020
MGI 6.14
The Jackson Laboratory