| Metadata | |
|---|---|
| ID | DOID:0090113 |
| Name | RIDDLE syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/30122534, https://www.omim.org/entry/611943, https://www.ncbi.nlm.nih.gov/pubmed/29255463 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome [EXACT] RNF168 deficiency [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |