Summary Literature (0)

DOID:0090113 - RIDDLE syndrome

Disease Ontology Definition:An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has_material_basis_in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.

Synonyms: RNF168 deficiency, Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome,

Echinobase Genes :


OMIM:

MIM:611943 - riddle syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee