OBO ID: DOID:0090113
Term Name: RIDDLE syndrome Search Ontology:
Synonyms:
  • Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
  • RNF168 deficiency
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. (3)
References:
Ontology: Human Disease   (DOID:0090113)
OTHER RIDDLE syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RNF168 RIDDLE syndrome 611943
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None