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DOID:0090113 - RIDDLE syndrome
Disease Ontology 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.
Synonyms: RNF168 deficiency, Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
Xenbase Genes
:
rnf168
| MONDO:0012764 - RIDDLE syndrome |
| MIM:611943 - RIDDLE SYNDROME; RIDL |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)